Gene Symbol cDNA Length(bp) coverage Associated Disease ...pathology.ucla.edu/workfiles/Clinical...

UCLA Health System

Department of Pathology and Laboratory Medicine

UCLA Molecular Diagnostics Laboratories

Clinical Exome Sequencing ENHANCED/TRIO PACKAGES

Feb 2013

Page 1

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests)

MARC1 1042 77% .

MARCH1 1200 100% .

MARC2 1036 85% .

MARCH2 757 100% .

MARCH3 778 100% .

MARCH4 1249 96% .

MARCH5 861 95% .

MARCH6 2837 99% .

MARCH7 2151 100% .

MARCH8 900 100% .

MARCH9 1057 64% .

MARCH10 2467 100% .

MARCH11 1225 56% .

SEPT1 1148 99% .

SEPT2 1130 100% .

SEPT3 1303 99% .

SEPT4 1841 97% .

SEPT5 1490 91% .

SEPT6 1367 98% .

SEPT7 1500 87% .

SEPT8 1812 96% .

SEPT9 3128 95% Hereditary Neuralgic Amyotrophy

SEPT10 1409 98% .

SEPT11 1330 98% .

SEPT12 1113 96% .

SEPT14 1335 100% .

SEP15 654 100% .

DEC1 229 100% .

A1BG 1520 78% .

A1CF 2166 100% .

A2LD1 466 16% .

A2M 4569 100% .

A2ML1 4505 100% .

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A4GALT 1066 99% .

A4GNT 1031 100% .

AAAS 1705 100% Achalasia-Addisonianism-Alacrima Syndrome

AAAS 1705 100% Choriodal Dystrophy, Central Areolar 2

AACS 2091 93% .

AADAC 1220 100% .

AADACL2 1226 100% .

AADACL3 1073 100% .

AADACL4 1240 100% .

AADAT 1330 97% .

AAGAB 988 100% .

AAK1 2970 100% .

AAMP 1349 99% .

AANAT 1017 82% .

AARS 2987 100% Charcot-Marie-Tooth Neuropathy Type 2

AARS 2987 100% Charcot-Marie-Tooth Neuropathy Type 2N

AARS2 3046 99% Combined Oxidative Phosphorylation Deficiency 8

AARSD1 1990 94% .

AASDH 3353 100% .

AASDHPPT 954 100% .

AASS 2873 100% Hyperlysinemia

AASS 2873 100% Choriodal Dystrophy, Central Areolar 2

AATF 1731 95% .

AATK 4330 61% .

ABAT 1563 99% GABA-Transaminase Deficiency

ABCA1 6982 100% Tangier Disease

ABCA1 6982 100% Familial High Density Lipoprotein Deficiency

ABCA1 6982 100% ABCA1-Associated Familial High Density Lipoprotein Deficiency

ABCA10 4780 100% .

ABCA12 8142 100% Autosomal Recessive Congenital Ichthyosis

ABCA12 8142 100% ABCA12-Related Autosomal Recessive Congenital Ichthyosis

ABCA12 8142 100% Harlequin Ichthyosis

ABCA13 15425 99% .

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ABCA2 7792 83% .

ABCA3 5235 96% Pulmonary Surfactant Metabolism Dysfunction

ABCA3 5235 96% ABCA3-Related Pulmonary Surfactant Metabolism Dysfunction

ABCA4 7022 100% Retinitis Pigmentosa, Autosomal Recessive

ABCA4 7022 100% ABCA4-Related Stargardt Disease 1

ABCA4 7022 100% Age-Related Macular Degeneration

ABCA4 7022 100% Retinitis Pigmentosa

ABCA4 7022 100% Cone-Rod Dystrophy 3

ABCA4 7022 100% ABCA4-Related Retinitis Pigmentosa

ABCA4 7022 100% Age-Related Macular Degeneration 2

ABCA4 7022 100% Stargardt Disease, Autosomal Recessive

ABCA4 7022 100% Choriodal Dystrophy, Central Areolar 2

ABCA5 5081 100% .

ABCA6 5006 100% .

ABCA7 6625 90% .

ABCA8 4894 100% .

ABCA9 5027 100% .

ABCB1 3951 100% .

ABCB10 2269 77% .

ABCB11 4074 100% Low Gamma-GT Familial Intrahepatic Cholestasis

ABCB11 4074 100% ABCB11-Related Intrahepatic Cholestasis

ABCB4 4201 100% Progressive Familial Intrahepatic Cholestasis 3

ABCB4 4201 100% Cholestasis, Familial Intrahepatic, of Pregnancy

ABCB4 4201 100% Gallbladder Disease 1

ABCB5 4131 100% .

ABCB6 2605 99% .

ABCB7 2326 98% X-Linked Sideroblastic Anemia and Ataxia

ABCB7 2326 98% Congenital Sideroblastic Anemia

ABCB7 2326 98% Choriodal Dystrophy, Central Areolar 2

ABCB8 2221 100% .

ABCB9 2345 86% .

ABCC1 4720 98% .

ABCC10 6054 100% .

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ABCC11 4265 99% .

ABCC12 4196 100% .

ABCC2 4766 100% Dubin-Johnson Syndrome

ABCC2 4766 100% Choriodal Dystrophy, Central Areolar 2

ABCC3 5084 98% .

ABCC4 4151 99% .

ABCC5 4470 100% .

ABCC6 4985 92% Pseudoxanthoma Elasticum


ABCC8 4902 95% Familial Hyperinsulinism

ABCC8 4902 95% ABCC8-Related Hyperinsulinism

ABCC8 4902 95% Permanent Neonatal Diabetes Mellitus

ABCC8 4902 95% ABCC8-Related Permanent Neonatal Diabetes Mellitus

ABCC8 4902 95% ABCC8-Related Transient Neonatal Diabetes Mellitus 2


ABCC9 4944 100% Dilated Cardiomyopathy

ABCC9 4944 100% ABCC9-Related Dilated Cardiomyopathy

ABCC9 4944 100% Hypertrichotic Osteochondrodysplasia

ABCD1 2278 82% Adrenoleukodystrophy, X-Linked

ABCD1 2278 82% Choriodal Dystrophy, Central Areolar 2

ABCD2 2263 100% .

ABCD3 2103 100% .

ABCD4 1897 100% Disorders of Intracellular Cobalamin Metabolism

ABCD4 1897 100% cbIJ

ABCE1 1868 100% .

ABCF1 2638 100% .

ABCF2 2111 100% .

ABCF3 2214 100% .

ABCG1 2702 96% .

ABCG2 2028 100% .

ABCG4 1997 100% .

ABCG5 2008 89% Sitosterolemia

ABCG8 2074 97% Sitosterolemia

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ABHD1 1254 100% .

ABHD10 941 100% .

ABHD11 1112 98% .

ABHD12 1311 85% Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract

ABHD12B 920 88% .

ABHD13 1018 100% .

ABHD14A 836 91% .

ABHD14B 645 100% .

ABHD15 1415 86% .

ABHD16A 1918 100% .

ABHD16B 1414 55% .

ABHD2 1314 100% .

ABHD3 1266 96% .

ABHD4 1057 97% .

ABHD5 1078 100% Chanarin-Dorfman Syndrome

ABHD6 1046 100% .

ABHD8 1336 100% .

ABI1 1811 97% .

ABI2 1468 100% .

ABI3 1305 82% .

ABI3BP 3368 100% .

ABL1 3577 98% .

ABL2 7214 99% .

ABLIM1 2673 100% .

ABLIM2 2402 99% .

ABLIM3 2144 100% .

ABO 1092 97% .

ABP1 2272 100% .

ABR 3000 93% .

ABRA 1154 100% .

ABT1 831 100% .

ABTB1 1649 97% .

ABTB2 3146 80% .

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ACAA1 1323 90% .

ACAA2 1234 92% .

ACACA 7827 100% .

ACACB 7585 100% .

ACAD10 3357 97% .

ACAD11 2423 100% .

ACAD8 1292 94% Isobutyryl-CoA Dehydrogenase Deficiency

ACAD9 1938 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)

ACAD9 1938 100% Acyl-CoA Dehydrogenase 9 Deficiency

ACADL 1337 96% Long-Chain Acyl-CoA Dehydrogenase Deficiency

ACADM 1430 100% Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency

ACADM 1430 100% Choriodal Dystrophy, Central Areolar 2

ACADS 1279 93% Short Chain Acyl-CoA Dehydrogenase Deficiency

ACADS 1279 93% Choriodal Dystrophy, Central Areolar 2

ACADSB 1343 97% Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency

ACADVL 2048 95% Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency

ACADVL 2048 95% Choriodal Dystrophy, Central Areolar 2

ACAN 7661 89% .

ACAP1 2311 93% .

ACAP2 2429 98% .

ACAP3 2601 72% .

ACAT1 1332 94% Ketothiolase Deficiency

ACAT1 1332 94% Choriodal Dystrophy, Central Areolar 2

ACAT2 1230 100% .

ACBD3 1619 87% .

ACBD4 1490 98% .

ACBD5 1800 100% .

ACBD6 881 100% .

ACBD7 283 100% .

ACCN1 2291 92% .

ACCN2 2003 99% .

ACCN3 2151 97% .

ACCN4 2041 91% .

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ACCN5 1558 100% .

ACCS 1562 99% .

ACCSL 1763 100% .

ACD 1926 100% .

ACE 4224 92% Cardiovascular Disease Risk Factor (Angiotensin Converting Enzyme (ACE))

ACE 4224 92% Renal Tubular Dysgenesis, ACE-Related

ACE 4224 92% Choriodal Dystrophy, Central Areolar 2

ACE2 2490 100% .

ACER1 819 99% .

ACER2 852 91% .

ACER3 848 87% .

ACHE 1996 93% .

ACIN1 4544 99% .

ACLY 3418 100% .

ACMSD 1051 100% .

ACN9 386 100% .

ACO1 2750 100% .

ACO2 2415 100% .

ACOT1 1278 65% .

ACOT11 2052 90% .

ACOT12 1728 94% .

ACOT13 451 96% .

ACOT2 1464 95% .

ACOT4 1278 88% .

ACOT6 632 100% .

ACOT7 1437 92% .

ACOT8 984 100% .

ACOT9 1411 98% .

ACOX1 2368 100% Pseudoneonatal Adrenoleukodystrophy

ACOX1 2368 100% Choriodal Dystrophy, Central Areolar 2

ACOX2 2102 100% .

ACOX3 2262 92% .

ACOXL 1811 100% .

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ACP1 1202 100% .

ACP2 1539 99% .

ACP5 994 100% .

ACP6 1327 95% .

ACPL2 1463 100% .

ACPP 1521 100% .

ACPT 1325 75% .

ACR 1286 89% .

ACRBP 1672 98% .

ACRC 2124 99% .

ACRV1 2834 100% .

ACSBG1 2324 100% .

ACSBG2 2053 97% .

ACSF2 1912 94% .

ACSF3 1767 97% .

ACSL1 2177 100% .

ACSL3 2219 100% .

ACSL4 2547 100% X-Linked Mental Retardation 63

ACSL5 2493 100% .

ACSL6 3149 100% .

ACSM1 1786 100% .

ACSM2A 1786 100% .

ACSM2B 1786 100% .

ACSM3 2156 100% .

ACSM4 1795 100% .

ACSM5 1792 100% .

ACSS1 2375 97% .

ACSS2 2421 92% .

ACSS3 2125 99% .

ACTA1 1158 100% Nemaline Myopathy

ACTA1 1158 100% Congenital Fiber-Type Disproportion

ACTA1 1158 100% ACTA1-Related Congenital Fiber-Type Disproportion

ACTA1 1158 100% ACTA1-Related Nemaline Myopathy

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ACTA1 1158 100% Childhood Restrictive Cardiomyopathy

ACTA1 1158 100% Choriodal Dystrophy, Central Areolar 2

ACTA2 1166 100% Thoracic Aortic Aneurysms and Aortic Dissections

ACTA2 1166 100% ACTA2-Related Thoracic Aortic Aneurysms and Aortic Dissections

ACTA2 1166 100% Multisystemic Smooth Muscle Dysfunction Syndrome (319694)

ACTA2 1166 100% Moyamoya Disease 5 (319695)

ACTA2 1166 100% Moyamoya Disease 5

ACTA2 1166 100% Multisystemic Smooth Muscle Dysfunction Syndrome

ACTB 1148 100% .

ACTBL2 1135 100% .

ACTC1 1158 100% Familial Hypertrophic Cardiomyopathy

ACTC1 1158 100% Dilated Cardiomyopathy

ACTC1 1158 100% ACTC1-Related Dilated Cardiomyopathy

ACTC1 1158 100% ACTC1-Related Familial Hypertrophic Cardiomyopathy

ACTC1 1158 100% Atrial Septal Defect 5

ACTC1 1158 100% Left Ventricular Noncompaction 4

ACTC1 1158 100% Choriodal Dystrophy, Central Areolar 2

ACTG1 1148 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

ACTG1 1148 100% DFNA20/26 Nonsyndromic Hearing Loss and Deafness

ACTG2 1163 100% .

ACTL10 742 86% .

ACTL6A 1525 100% .

ACTL6B 1337 94% .

ACTL7A 1312 100% .

ACTL7B 1252 100% .

ACTL8 1109 100% .

ACTL9 1255 100% .

ACTN1 2833 100% .

ACTN2 2769 100% Familial Hypertrophic Cardiomyopathy

ACTN2 2769 100% Dilated Cardiomyopathy

ACTN2 2769 100% ACTN2-Related Dilated Cardiomyopathy

ACTN2 2769 100% ACTN2-Related Familial Hypertrophic Cardiomyopathy

ACTN3 2790 95% .

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ACTN4 2820 95% Focal Segmental Glomerulosclerosis

ACTN4 2820 95% Focal Segmental Glomerulosclerosis 1

ACTR10 1306 100% .

ACTR1A 1175 100% .

ACTR1B 1175 97% .

ACTR2 1240 98% .

ACTR3 1305 96% .

ACTR3B 1305 96% .

ACTR3C 657 100% .

ACTR5 1860 86% .

ACTR6 1235 100% .

ACTR8 1927 99% .

ACTRT1 1135 100% .

ACTRT2 1138 100% .

ACVR1 1566 100% Fibrodysplasia Ossificans Progressiva

ACVR1B 1925 91% .

ACVR1C 1753 99% .

ACVR2A 1586 100% .

ACVR2B 1583 96% Heterotaxy Syndrome

ACVR2B 1583 96% ACVR2B-Related Visceral Heterotaxy

ACVRL1 1548 95% Hereditary Hemorrhagic Telangiectasia

ACVRL1 1548 95% ACVRL1-Related Hereditary Hemorrhagic Telangiectasia

ACVRL1 1548 95% Choriodal Dystrophy, Central Areolar 2

ACY1 1491 100% .

ACY3 984 87% .

ACYP1 611 100% .

ACYP2 316 98% .

ADA 1140 94% Adenosine Deaminase Deficiency

ADA 1140 94% Choriodal Dystrophy, Central Areolar 2

ADAD1 2126 100% .

ADAD2 2227 89% .

ADAL 1315 77% .

ADAM10 2311 98% .

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ADAM11 2418 92% .

ADAM12 2930 98% .

ADAM15 2892 93% .

ADAM17 2551 97% .

ADAM18 2536 100% .

ADAM19 2849 94% .

ADAM2 2288 100% .

ADAM20 2335 100% .

ADAM21 2173 100% .

ADAM22 3015 99% .

ADAM23 2603 92% .

ADAM28 2732 100% .

ADAM29 2467 100% .

ADAM30 2377 100% .

ADAM32 2464 97% .

ADAM33 2530 73% .

ADAM7 2353 100% .

ADAM8 3037 60% .

ADAM9 2548 99% Cone-Rod Dystrophy 9

ADAMDEC1 1550 100% .

ADAMTS1 2940 95% .

ADAMTS10 3408 86% ADAMTS10-Related Weill-Marchesani Syndrome

ADAMTS10 3408 86% Weill-Marchesani Syndrome

ADAMTS12 4881 100% .

ADAMTS13 4890 90% Familial Thrombotic Thrombocytopenia Purpura

ADAMTS14 3930 91% .

ADAMTS15 2885 99% .

ADAMTS16 3767 93% .

ADAMTS17 3376 81% Weill-Marchesani-Like Syndrome

ADAMTS18 3758 96% .

ADAMTS19 3716 88% .

ADAMTS2 3800 84% .

ADAMTS20 5889 100% .

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ADAMTS3 3706 100% .

ADAMTS4 2550 97% .

ADAMTS5 2825 97% .

ADAMTS6 3450 100% .

ADAMTS7 5157 85% .

ADAMTS8 2706 78% .

ADAMTS9 5964 98% .

ADAMTSL1 5502 100% .

ADAMTSL2 2928 30% Geleophysic Dysplasia 1

ADAMTSL2 2928 30% Geleophysic Dysplasia

ADAMTSL3 5192 100% .

ADAMTSL4 3624 99% ADAMTSL4-Related Eye Disorders

ADAMTSL5 1460 69% .

ADAP1 1169 75% .

ADAP2 1190 92% .

ADAR 5756 100% Dyschromatosis Symmetrica Hereditaria 1

ADARB1 2463 95% .

ADARB2 2260 83% .

ADAT1 1545 100% .

ADAT2 600 100% .

ADAT3 1060 47% .

ADC 1419 100% .

ADCK1 1612 100% .

ADCK2 1913 98% .

ADCK3 2000 96% Coenzyme Q10 Deficiency

ADCK3 2000 96% CABC1-Related Coenzyme Q10 Deficiency

ADCK3 2000 96% Spinocerebellar Ataxia, Autosomal Recessive, 9

ADCK4 1691 98% .

ADCK5 1803 60% .

ADCY1 3440 93% .

ADCY10 5171 100% .

ADCY2 3376 100% .

ADCY3 3519 97% .

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ADCY4 3334 91% .

ADCY5 3958 85% .

ADCY6 3591 99% .

ADCY7 3343 90% .

ADCY8 3828 94% .

ADCY9 4102 96% .

ADCYAP1 547 87% .

ADCYAP1R1 1643 100% .

ADD1 3107 100% .

ADD2 3001 100% .

ADD3 2177 100% .

ADH1A 1164 100% .

ADH1B 1164 100% .

ADH1C 1164 100% .

ADH4 1179 100% .

ADH5 1161 100% .

ADH6 1315 100% .

ADH7 1279 95% .

ADHFE1 1460 96% .

ADI1 556 78% .

ADIG 251 100% .

ADIPOQ 743 100% .

ADIPOR1 1156 100% .

ADIPOR2 1189 100% .

ADK 1151 94% Hypermethioninemia due to Adenosine Kinase Deficiency

ADM 570 100% .

ADM2 455 76% .

ADNP 3321 100% .

ADNP2 3408 100% .

ADO 817 84% .

ADORA1 989 100% .

ADORA2A 1247 100% .

ADORA2B 1007 99% .

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ADORA3 1790 100% .

ADPGK 1519 85% .

ADPRH 1086 100% .

ADPRHL1 1262 96% .

ADPRHL2 1116 81% .

ADRA1A 2222 93% .

ADRA1B 1571 80% .

ADRA1D 1727 72% .

ADRA2A 1402 81% .

ADRA2B 1348 99% .

ADRA2C 1393 71% .

ADRB1 1438 82% .

ADRB2 1246 100% Asthma, Susceptibility to

ADRB2 1246 100% Obesity

ADRB3 1235 45% .

ADRBK1 2154 96% .

ADRBK2 2151 96% .

ADRM1 1260 95% .

ADSL 1507 100% Adenylosuccinase Deficiency

ADSS 1423 99% .

ADSSL1 1751 75% .

AEBP1 3561 97% .

AEBP2 1629 73% .

AEN 990 99% .

AES 1080 69% .

AFAP1 2513 99% .

AFAP1L1 2383 93% .

AFAP1L2 2731 95% .

AFF1 3986 99% .

AFF2 4495 99% X-Linked Mental Retardation Associated with Fragile Site FRAXE

AFF2 4495 99% Choriodal Dystrophy, Central Areolar 2

AFF3 3848 98% .

AFF4 3572 100% .

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AFG3L2 2462 95% Spinocerebellar Ataxia Type28

AFM 1856 100% .

AFMID 1126 95% .

AFP 1886 100% .

AFTPH 3005 100% .

AGA 1269 100% Aspartylglycosaminuria

AGA 1269 100% Choriodal Dystrophy, Central Areolar 2

AGAP1 2646 100% .

AGAP11 1669 100% .

AGAP2 3819 84% .

AGAP3 2875 96% .

AGAP4 2020 76% .

AGAP5 2093 100% .

AGAP6 2093 100% .

AGAP7 2020 95% .

AGAP8 2020 69% .

AGAP9 4018 13% .

AGBL1 3293 100% .

AGBL2 2781 96% .

AGBL3 2827 67% .

AGBL4 1568 99% .

AGBL5 3066 100% .

AGER 2131 100% .

AGFG1 1913 100% .

AGFG2 1494 86% .

AGGF1 2201 100% .

AGK 1329 98% .

AGL 5046 100% Glycogen Storage Disease Type III

AGL 5046 100% Choriodal Dystrophy, Central Areolar 2

AGMAT 1087 83% .

AGMO 1390 100% .

AGPAT1 876 100% .

AGPAT2 861 89% Berardinelli-Seip Congenital Lipodystrophy

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AGPAT2 861 89% Berardinelli-Seip Congenital Lipodystrophy Type 1

AGPAT3 1163 100% .

AGPAT4 1169 100% .

AGPAT5 1127 100% .

AGPAT6 1419 94% .

AGPAT9 1353 100% .

AGPHD1 1144 99% .

AGPS 2057 88% Rhizomelic Chondrodysplasia Punctata Type 3

AGPS 2057 88% Choriodal Dystrophy, Central Areolar 2

AGR2 556 100% .

AGR3 529 100% .

AGRN 6282 72% Congenital Myasthenic Syndromes

AGRN 6282 72% AGRN-Related Congenital Myasthenic Syndrome

AGRP 411 100% .

AGT 1474 100% Cardiovascular Disease Risk Factor (Angiotensinogen)

AGT 1474 100% Renal Tubular Dysgenesis, AGT-Related

AGT 1474 100% Choriodal Dystrophy, Central Areolar 2

AGTPBP1 3661 100% .

AGTR1 1084 100% Cardiovascular Disease Risk Factor (Angiotensin II Receptor, Type 1)

AGTR1 1084 100% Renal Tubular Dysgenesis, AGTR1-Related

AGTR1 1084 100% Choriodal Dystrophy, Central Areolar 2

AGTR2 1096 100% X-Linked Mental Retardation 88

AGTRAP 1121 98% .

AGXT 1223 75% Hyperoxaluria, Primary, Type 1

AGXT 1223 75% Hyperoxaluria, Primary

AGXT 1223 75% Choriodal Dystrophy, Central Areolar 2

AGXT2 1601 94% .

AGXT2L1 1721 100% .

AGXT2L2 1401 96% .

AHCTF1 6972 100% .

AHCY 1534 98% Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency

AHCYL1 1777 99% .

AHCYL2 2142 88% .

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AHDC1 4816 94% .

AHI1 3752 100% Joubert Syndrome and Related Disorders

AHI1 3752 100% AHI1-Related Joubert Syndrome

AHNAK 17801 100% .

AHNAK2 17416 98% .

AHR 2591 100% .

AHRR 2251 93% .

AHSA1 1053 84% .

AHSA2 430 100% .

AHSG 1132 100% .

AHSP 317 100% .

AICDA 617 100% Immunodeficiency with Hyper-IgM, Type 2

AIDA 961 98% .

AIF1 1899 100% .

AIF1L 818 88% .

AIFM1 2165 97% Combined Oxidative Phosphorylation Deficiency 6

AIFM2 1154 99% .

AIFM3 2152 91% .

AIG1 741 100% .

AIM1 5252 98% .

AIM1L 5062 81% .

AIM2 1052 100% .

AIMP1 1177 100% .

AIMP2 979 100% .

AIP 1017 100% AIP-Related Familial Isolated Pituitary Adenomas

AIPL1 1179 100% Retinitis Pigmentosa, Autosomal Dominant

AIPL1 1179 100% Leber Congenital Amaurosis

AIPL1 1179 100% Retinitis Pigmentosa

AIPL1 1179 100% AIPL1-Related Leber Congenital Amaurosis

AIPL1 1179 100% AIPL1-Related Retinitis Pigmentosa

AIRE 2390 84% Autoimmune Polyendocrinopathy Syndrome Type 1

AIRE 2390 84% Choriodal Dystrophy, Central Areolar 2

AJAP1 1256 96% .

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AJUBA 1784 81% .

AK1 609 98% .

AK2 1078 95% .

AK3 828 93% .

AK4 692 93% .

AK5 1936 97% .

AK7 2244 100% .

AK8 1492 87% .

AKAP1 2752 100% .

AKAP10 2049 96% .

AKAP11 5750 100% .

AKAP12 5390 97% .

AKAP13 8793 100% .

AKAP14 728 100% .

AKAP17A 4208 45% .

AKAP2 5323 97% .

AKAP3 2574 100% .

AKAP4 2589 100% .

AKAP5 1288 100% .

AKAP6 7008 100% .

AKAP7 1135 100% .

AKAP8 2135 100% .

AKAP8L 1997 89% .

AKAP9 12105 100% Romano-Ward Syndrome

AKAP9 12105 100% Long QT Syndrome 11

AKD1 6105 90% .

AKIP1 653 85% .

AKIRIN1 599 63% .

AKIRIN2 632 64% .

AKNA 4404 94% .

AKNAD1 2571 100% .

AKR1A1 1010 100% .

AKR1B1 991 99% .

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AKR1B10 991 100% .

AKR1B15 1075 86% .

AKR1C1 1008 91% .

AKR1C2 1063 91% .

AKR1C3 1129 100% .

AKR1C4 1008 100% .

AKR1D1 1064 100% Bile Acid Synthesis Defect, Congenital, 2

AKR1E2 1003 96% .

AKR7A2 1108 85% .

AKR7A3 1024 93% .

AKT1 1495 100% Proteus Syndrome

AKT1S1 787 61% .

AKT2 1614 100% .

AKT3 1540 100% PI3K/AKT Pathway Megalencephaly Syndromes

AKTIP 915 100% .

ALAD 1037 100% Acute Hepatic Porphyria

ALAD 1037 100% Choriodal Dystrophy, Central Areolar 2

ALAS1 1963 100% .

ALAS2 2080 92% X-Linked Sideroblastic Anemia

ALAS2 2080 92% Erythropoietic Protoporphyria, X-Linked Dominant

ALAS2 2080 92% Congenital Sideroblastic Anemia

ALAS2 2080 92% Choriodal Dystrophy, Central Areolar 2

ALB 1886 100% Dysalbuminemic Hyperthyroxinemia

ALCAM 2158 100% .

ALDH16A1 2477 79% .

ALDH18A1 2619 100% ALDH18A1-Related Cutis Laxa

ALDH1A1 1558 100% .

ALDH1A2 1754 100% .

ALDH1A3 1591 93% .

ALDH1B1 1558 100% .

ALDH1L1 2797 95% .

ALDH1L2 2864 98% .

ALDH2 1606 90% .

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Feb 2013

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ALDH3A1 1402 99% .

ALDH3A2 1586 93% Sjogren-Larsson Syndrome

ALDH3A2 1586 93% Choriodal Dystrophy, Central Areolar 2

ALDH3B1 1440 80% .

ALDH3B2 1190 100% .

ALDH4A1 1849 83% Hyperprolinemia, Type II


ALDH5A1 1691 79% Succinic Semialdehyde Dehydrogenase Deficiency


ALDH6A1 1656 100% Methylmalonate Semialdehyde Dehydrogenase Deficiency

ALDH7A1 2084 99% Pyridoxine-Dependent Epilepsy

ALDH8A1 1492 100% .

ALDH9A1 1601 100% .

ALDOA 1243 100% Aldolase A Deficiency

ALDOA 1243 100% Choriodal Dystrophy, Central Areolar 2

ALDOB 1127 100% Hereditary Fructose Intolerance

ALDOB 1127 100% Choriodal Dystrophy, Central Areolar 2

ALDOC 1127 100% .

ALG1 1447 93% Congenital Disorders of Glycosylation

ALG1 1447 93% ALG1-CDG (CDG-Ik)

ALG10 1434 100% .

ALG10B 1434 100% .


ALG11 1495 100% ALG11-CDG (CDG-Ip)


ALG12 1503 100% ALG12-CDG (CDG-Ig)


ALG13 3950 98% ALG13-CDG

ALG14 667 100% .

ALG1L 774 100% .

ALG1L2 680 96% .


ALG2 1259 91% ALG2-CDG (CDG-Ii)

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Feb 2013

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ALG3 1409 100% ALG3-CDG (CDG-Id)

ALG5 1112 100% .


ALG6 1580 100% ALG6-CDG (CDG-Ic)


ALG8 1692 94% ALG8-CDG (CDG-Ih)


ALG9 2302 88% ALG9-CDG (CDG-IL)

ALK 4979 98% Neuroblastoma, Susceptibility

ALK 4979 98% ALK-Related Neuroblastoma Susceptibility

ALKBH1 1194 100% .

ALKBH2 1109 100% .

ALKBH3 897 100% .

ALKBH4 921 94% .

ALKBH5 1201 89% .

ALKBH6 950 72% .

ALKBH7 682 71% .

ALKBH8 2039 100% .

ALLC 1220 100% .

ALMS1 12596 98% Alstrom Syndrome

ALOX12 2048 91% .

ALOX12B 2166 89% Autosomal Recessive Congenital Ichthyosis

ALOX12B 2166 89% ALOX12B-Related Autosomal Recessive Congenital Ichthyosis

ALOX15 2045 93% .

ALOX15B 2261 92% .

ALOX5 2264 88% .

ALOX5AP 580 100% .

ALOXE3 3060 94% Autosomal Recessive Congenital Ichthyosis

ALOXE3 3060 94% ALOXE3-Related Autosomal Recessive Congenital Ichthyosis

ALPI 1631 94% .

ALPK1 3916 100% .

ALPK2 6561 100% .

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Feb 2013

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ALPK3 5780 90% .

ALPL 1867 100% Hypophosphatasia

ALPL 1867 100% Choriodal Dystrophy, Central Areolar 2

ALPP 1652 95% .

ALPPL2 1643 82% .

ALS2 6204 99% Amyotrophic Lateral Sclerosis

ALS2 6204 99% ALS2-Related Disorders

ALS2CL 3063 94% .

ALS2CR11 6204 100% .

ALS2CR12 1557 100% .

ALS2CR8 2234 100% .

ALX1 997 100% .

ALX3 1048 79% Frontorhiny

ALX4 1252 86% Parietal Foramina 2

ALX4 1252 86% Enlarged Parietal Foramina/Cranium Bifidum

ALYREF 819 69% .

AMACR 2055 98% Alpha-Methylacyl-CoA Racemase Deficiency

AMBN 1396 100% .

AMBP 1099 100% .

AMBRA1 3699 100% .

AMD1 1088 99% .

AMDHD1 1317 89% .

AMDHD2 2274 93% .

AMELX 642 100% Amelogenesis Imperfecta, Type 1E

AMELY 599 95% .

AMFR 1988 87% .

AMH 1703 47% .

AMHR2 2208 100% .

AMICA1 1238 100% .

AMIGO1 1486 100% .

AMIGO2 1573 100% .

AMIGO3 1519 100% .

AMMECR1 1503 77% .

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AMMECR1L 957 100% .

AMN 1410 44% Megaloblastic Anemia

AMN1 805 95% .

AMOT 3823 87% .

AMOTL1 2923 99% .

AMOTL2 2379 100% .

AMPD1 2407 100% Myoadenylate Deaminase Deficiency

AMPD1 2407 100% Choriodal Dystrophy, Central Areolar 2

AMPD2 2915 100% .

AMPD3 2808 99% Erythrocyte AMP Deaminase Deficiency

AMPH 2172 95% .

AMT 1459 100% Glycine Encephalopathy

AMT 1459 100% AMT-Related Glycine Encephalopathy

AMT 1459 100% Choriodal Dystrophy, Central Areolar 2

AMTN 662 100% .

AMY1A 4728 12% .

AMY1B 4728 12% .

AMY1C 4728 12% .

AMY2A 1576 73% .

AMY2B 1576 100% .

AMZ1 1521 90% .

AMZ2 1107 100% .

ANAPC1 6023 90% .

ANAPC10 574 100% .

ANAPC11 788 100% .

ANAPC13 233 100% .

ANAPC16 345 100% .

ANAPC2 2521 97% .

ANAPC4 2539 100% .

ANAPC5 2636 100% .

ANAPC7 2007 100% .

ANG 448 100% Amyotrophic Lateral Sclerosis

ANG 448 100% ANG-Related Amyotrophic Lateral Sclerosis

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Feb 2013

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ANGEL1 2053 97% .

ANGEL2 1671 100% .

ANGPT1 1770 100% .

ANGPT2 1662 100% .

ANGPT4 1548 96% .

ANGPTL1 1492 100% .

ANGPTL2 1498 100% .

ANGPTL3 1411 100% .

ANGPTL4 1249 78% .

ANGPTL5 1199 100% .

ANGPTL6 1433 71% .

ANGPTL7 1061 100% .

ANK1 7006 97% Spherocytosis, Type 1

ANK2 12123 99% Long QT Syndrome 4

ANK3 13639 100% .

ANKAR 4393 100% .

ANKDD1A 1629 87% .

ANKFN1 2360 100% .

ANKFY1 4001 98% .

ANKH 1527 100% Craniometaphyseal Dysplasia, Autosomal Dominant

ANKH 1527 100% Craniometaphyseal Dysplasia

ANKH 1527 100% Chondrocalcinosis 2

ANKH 1527 100% Choriodal Dystrophy, Central Areolar 2

ANKHD1 8138 98% .

ANKHD1-EIF4EBP3 8023 98% .

ANKIB1 3346 100% .

ANKK1 2330 94% .

ANKLE1 1884 86% .

ANKLE2 2869 88% .

ANKMY1 3355 99% .

ANKMY2 1366 100% .

ANKRA2 974 100% .

ANKRD1 996 100% Dilated Cardiomyopathy

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Feb 2013

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ANKRD1 996 100% ANKRD1-Related Dilated Cardiomyopathy

ANKRD10 1287 88% .

ANKRD11 8036 95% KBG Syndrome

ANKRD12 6237 100% .

ANKRD13A 1833 95% .

ANKRD13B 1941 79% .

ANKRD13C 1678 99% .

ANKRD13D 1878 72% .

ANKRD16 1276 94% .

ANKRD17 7948 98% .

ANKRD18A 3043 100% .

ANKRD2 1119 70% .

ANKRD20A1 2532 68% .

ANKRD20A2 5064 25% .

ANKRD20A3 7596 40% .

ANKRD20A4 2532 88% .

ANKRD22 600 100% .

ANKRD23 954 88% .

ANKRD24 3525 68% .

ANKRD26 5444 100% .

ANKRD27 3265 99% .

ANKRD28 3274 99% .

ANKRD29 946 97% .

ANKRD30A 4166 93% .

ANKRD30B 4323 92% .

ANKRD31 5722 43% .

ANKRD32 3257 100% .

ANKRD33 3245 100% .

ANKRD33B 1501 45% .

ANKRD34A 1495 100% .

ANKRD34B 1549 100% .

ANKRD34C 1612 0% .

ANKRD35 3058 99% .

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Feb 2013

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ANKRD36 6126 85% .

ANKRD36B 4234 68% .

ANKRD37 497 100% .

ANKRD39 568 96% .

ANKRD40 1127 100% .

ANKRD42 1210 100% .

ANKRD44 3221 99% .

ANKRD45 821 100% .

ANKRD46 699 100% .

ANKRD49 728 100% .

ANKRD5 2367 100% .

ANKRD50 4536 100% .

ANKRD52 3343 100% .

ANKRD53 2442 94% .

ANKRD54 935 94% .

ANKRD55 1889 100% .

ANKRD6 2345 98% .

ANKRD63 1147 0% .

ANKRD65 2333 0% .

ANKRD7 789 100% .

ANKRD9 958 25% .

ANKS1A 3501 96% .

ANKS1B 5045 100% .

ANKS3 2031 96% .

ANKS4B 1262 100% .

ANKS6 2676 86% .

ANKUB1 1659 53% .

ANKZF1 2233 100% .

ANLN 3561 100% .

ANO1 3065 99% .

ANO10 2031 99% Spinocerebellar Ataxia, Autosomal Recessive, 10

ANO2 3101 100% .

ANO3 3054 100% .

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Feb 2013

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ANO4 2863 100% .

ANO5 2885 100% Limb-Girdle Muscular Dystrophies, Autosomal Recessive

ANO5 2885 100% ANO5-Related Muscle Diseases

ANO5 2885 100% Miyoshi Muscular Dystrophy 3

ANO5 2885 100% Limb-Girdle Muscular Dystrophy Type 2L

ANO6 3101 91% .

ANO7 3193 90% .

ANO8 3771 68% .

ANO9 2441 86% .

ANP32A 778 100% .

ANP32B 784 96% .

ANP32C 709 100% .

ANP32D 400 100% .

ANP32E 989 100% .

ANPEP 2984 100% .

ANTXR1 1844 91% .

ANTXR2 1704 100% Hyalinosis, Inherited Systemic

ANXA1 1089 100% .

ANXA10 1023 100% .

ANXA11 1574 95% .

ANXA13 1122 100% .

ANXA2 1189 97% .

ANXA3 1020 100% .

ANXA4 1014 100% .

ANXA5 1011 100% .

ANXA6 2217 100% .

ANXA7 1519 100% .

ANXA8 2064 9% .

ANXA8L1 2064 9% .

ANXA8L2 1032 46% .

ANXA9 1086 100% .

AOAH 2504 100% .

AOC2 2577 100% .

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Feb 2013

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AOC3 2308 100% .

AOX1 4157 99% .

AP1AR 949 91% .

AP1B1 3088 94% .

AP1G1 2672 100% .

AP1G2 2442 100% .

AP1M1 1360 94% .

AP1M2 1320 100% .

AP1S1 497 99% .

AP1S2 490 100% X-linked Mental Retardation 59

AP1S3 485 99% .

AP2A1 3030 94% .

AP2A2 3060 97% .

AP2B1 2940 100% .

AP2M1 1643 100% .

AP2S1 449 100% .

AP3B1 3393 100% Hermansky-Pudlak Syndrome

AP3B1 3393 100% Hermansky-Pudlak Syndrome 2

AP3B2 3353 94% .

AP3D1 3952 93% .

AP3M1 1289 100% .

AP3M2 1289 100% .

AP3S1 606 98% .

AP3S2 606 88% .

AP4B1 2489 100% .

AP4E1 3626 100% .

AP4M1 1422 100% .

AP4S1 709 100% .

APAF1 4196 100% .

APBA1 2562 95% .

APBA2 2298 100% .

APBA3 1768 64% .

APBB1 2442 100% .

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Feb 2013

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APBB1IP 2053 90% .

APBB2 2729 100% .

APBB3 1968 100% .

APC 8761 98% APC-Associated Polyposis Conditions

APC 8761 98% Colon Cancer (APC I1307K related)

APC 8761 98% Turcot Syndrome

APC 8761 98% Choriodal Dystrophy, Central Areolar 2

APC2 6968 58% .

APCDD1 1565 97% .

APCDD1L 1522 80% .

APCS 680 100% .

APEH 2287 94% .

APEX1 973 100% .

APEX2 1581 94% .

APH1A 1151 98% .

APH1B 798 100% .

API5 1882 100% .

APIP 757 100% .

APITD1 437 87% .

APITD1-CORT 738 93% .

APLF 1576 94% .

APLN 242 62% .

APLNR 1147 100% .

APLP1 2055 86% .

APLP2 2364 95% .

APOA1 816 99% Familial Visceral Amyloidosis

APOA1 816 99% Familial High Density Lipoprotein Deficiency

APOA1 816 99% APOA1-Associated Familial High Density Lipoprotein Deficiency

APOA1 816 99% APOA1-Related Familial Visceral Amyloidosis

APOA1BP 891 100% .

APOA2 315 100% .

APOA4 1203 100% .

APOA5 1113 100% .

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Feb 2013

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APOB 13808 99% Familial Hypercholesterolemia Type B

APOB 13808 99% Choriodal Dystrophy, Central Areolar 2

APOBEC1 731 100% .

APOBEC2 683 100% .

APOBEC3A 639 99% .

APOBEC3B 1181 100% .

APOBEC3C 589 100% .

APOBEC3D 1189 100% .

APOBEC3F 1289 93% .

APOBEC3G 1187 100% .

APOBEC3H 709 82% .

APOBEC4 1108 100% .

APOBR 3287 87% .

APOC1 264 100% .

APOC2 318 100% Apolipoprotein C-II Deficiency

APOC3 312 100% .

APOC4 396 96% .

APOD 586 100% .

APOE 966 63% Cardiovascular Disease Risk Factor (Apolipoprotein E)

APOE 966 63% Alzheimer Disease Type 2

APOE 966 63% Alzheimer Disease Risk Factor (APOE Genotype)

APOE 966 63% Choriodal Dystrophy, Central Areolar 2

APOF 989 100% .

APOH 1070 100% .

APOL1 1336 100% End-Stage Renal Disease, Nondiabetic, Susceptibility to

APOL2 1026 100% .

APOL3 2084 100% .

APOL4 1109 100% .

APOL5 1318 100% .

APOL6 1040 100% .

APOLD1 855 63% .

APOM 750 97% .

APOO 629 98% .

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Feb 2013

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APOOL 843 100% .

APOPT1 641 78% .

APP 2557 98% Early-Onset Familial Alzheimer Disease

APP 2557 98% Alzheimer Disease Type 1

APP 2557 98% Choriodal Dystrophy, Central Areolar 2

APPBP2 1810 100% .

APPL1 2218 97% .

APPL2 2245 97% .

APRT 710 80% Adenine Phosphoribosyltransferase Deficiency

APRT 710 80% Choriodal Dystrophy, Central Areolar 2

APTX 1859 100% Ataxia with Oculomotor Apraxia 1

APTX 1859 100% Coenzyme Q10 Deficiency

APTX 1859 100% APTX-Related Coenzyme Q10 Deficiency

APTX 1859 100% Choriodal Dystrophy, Central Areolar 2

AQP1 1597 100% .

AQP10 930 100% .

AQP11 828 100% .

AQP12A 904 61% .

AQP12B 936 65% .

AQP2 832 100% Nephrogenic Diabetes Insipidus, Autosomal

AQP2 832 100% Nephrogenic Diabetes Insipidus

AQP2 832 100% Choriodal Dystrophy, Central Areolar 2

AQP3 903 89% .

AQP4 1411 100% .

AQP5 814 100% .

AQP6 865 100% .

AQP7 1057 100% .

AQP8 810 100% .

AQP9 912 100% .

AQPEP 3053 100% .

AQR 4598 100% .

AR 2819 88% Spinal and Bulbar Muscular Atrophy

AR 2819 88% Androgen Insensitivity Syndrome

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Feb 2013

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AR 2819 88% Choriodal Dystrophy, Central Areolar 2

ARAF 2087 89% .

ARAP1 4557 87% .

ARAP2 5243 100% .

ARAP3 4763 98% .

ARC 1195 91% .

ARCN1 1576 100% .

AREG 1558 65% .

ARF1 562 100% .

ARF3 562 100% .

ARF4 567 100% .

ARF5 567 94% .

ARF6 532 100% .

ARFGAP1 1384 96% .

ARFGAP2 1630 95% .

ARFGAP3 1615 96% .

ARFGEF1 5706 100% .

ARFGEF2 5514 98% Periventricular Heterotopia, Autosomal Recessive

ARFIP1 1154 100% .

ARFIP2 1379 100% .

ARFRP1 747 90% .

ARG1 1180 100% Arginase Deficiency

ARG1 1180 100% Choriodal Dystrophy, Central Areolar 2

ARG2 1097 100% .

ARGFX 964 87% .

ARGLU1 838 100% .

ARHGAP1 1368 93% .

ARHGAP10 2453 100% .

ARHGAP11A 3309 100% .

ARHGAP11B 828 100% .

ARHGAP12 2613 100% .

ARHGAP15 1480 100% .

ARHGAP17 2726 96% .

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Feb 2013

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ARHGAP18 2052 100% .

ARHGAP19 1533 100% .

ARHGAP20 3636 99% .

ARHGAP21 5977 100% .

ARHGAP22 2403 76% .

ARHGAP23 4572 47% .

ARHGAP24 2526 100% .

ARHGAP25 2481 100% .

ARHGAP26 2817 100% .

ARHGAP27 2507 73% .

ARHGAP28 1777 100% .

ARHGAP29 3874 100% .

ARHGAP30 6602 100% .

ARHGAP31 4383 100% Adams-Oliver Syndrome 1

ARHGAP32 6506 100% .

ARHGAP33 7144 87% .

ARHGAP35 4524 100% .

ARHGAP36 1688 100% .

ARHGAP39 3389 82% .

ARHGAP4 3053 76% .

ARHGAP40 2085 81% .

ARHGAP42 2721 85% .

ARHGAP44 2541 90% .

ARHGAP5 4685 100% .

ARHGAP6 3658 85% .

ARHGAP8 1839 99% .

ARHGAP9 2666 96% .

ARHGDIA 839 100% .

ARHGDIB 626 100% .

ARHGDIG 702 85% .

ARHGEF1 2943 95% .

ARHGEF10 4147 100% .

ARHGEF10L 3952 91% .

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Feb 2013

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ARHGEF11 4853 100% .

ARHGEF12 4799 100% .

ARHGEF15 2586 100% .

ARHGEF16 2186 79% .

ARHGEF17 6276 94% .

ARHGEF18 4144 86% .

ARHGEF19 2469 87% .

ARHGEF2 3346 95% .

ARHGEF25 2025 95% .

ARHGEF26 2781 100% .

ARHGEF3 1943 89% .

ARHGEF33 2677 92% .

ARHGEF35 1459 86% .

ARHGEF37 2076 100% .

ARHGEF38 832 100% .

ARHGEF4 2387 94% .

ARHGEF40 4652 97% .

ARHGEF5 4850 66% .

ARHGEF6 2419 100% X-Linked Mental Retardation 46

ARHGEF7 2988 93% .

ARHGEF9 1821 93% Hyperekplexia

ARHGEF9 1821 93% ARHGEF9-Related Hyperekplexia

ARID1A 7834 89% ARID1A-Related Coffin-Siris Syndrome

ARID1A 7834 89% Coffin-Siris Syndrome

ARID1B 6830 80% ARID1B-Related Coffin-Siris Syndrome

ARID1B 6830 80% Coffin-Siris Syndrome

ARID2 5592 100% .

ARID3A 1814 77% .

ARID3B 1715 100% .

ARID3C 1267 91% .

ARID4A 4077 100% .

ARID4B 4031 100% .

ARID5A 1813 91% .

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Feb 2013

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ARID5B 3607 100% .

ARIH1 1730 97% .

ARIH2 1538 100% .

ARL1 570 100% .

ARL10 751 76% .

ARL11 595 100% .

ARL13A 932 100% .

ARL13B 1581 100% Joubert Syndrome and Related Disorders

ARL13B 1581 100% ARL13B-Related Joubert Syndrome

ARL14 583 100% .

ARL15 635 100% .

ARL16 614 100% .

ARL17A 1338 21% .

ARL17B 669 23% .

ARL2 575 97% .

ARL2BP 516 95% .

ARL3 573 100% .

ARL4A 607 100% .

ARL4C 583 100% .

ARL4D 610 100% .

ARL5A 716 100% .

ARL5B 564 100% .

ARL5C 564 88% .

ARL6 589 100% Bardet-Biedl Syndrome

ARL6 589 100% Retinitis Pigmentosa

ARL6 589 100% ARL6-Related Bardet-Biedl Syndrome

ARL6 589 100% ARL6-Related Retinitis Pigmentosa

ARL6IP1 636 99% .

ARL6IP4 1765 61% .

ARL6IP5 579 100% .

ARL6IP6 697 100% .

ARL8A 643 100% .

ARL8B 589 100% .

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Feb 2013

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ARL9 384 100% .

ARMC1 873 100% .

ARMC10 1060 96% .

ARMC12 1128 100% .

ARMC2 2672 100% .

ARMC3 2691 100% .

ARMC4 3211 100% .

ARMC5 3958 97% .

ARMC6 1709 100% .

ARMC7 609 100% .

ARMC8 2300 100% .

ARMC9 2078 100% .

ARMCX1 1366 100% .

ARMCX2 1903 100% .

ARMCX3 1144 100% .

ARMCX5 1681 100% .

ARMCX5-GPRASP2 2521 100% .

ARMCX6 907 74% .

ARMS2 332 91% Age-Related Macular Degeneration

ARMS2 332 91% Age-Related Macular Degeneration 8

ARNT 2625 99% .

ARNT2 2230 98% .

ARNTL 1957 100% .

ARNTL2 2155 97% .

ARPC1A 1326 99% .

ARPC1B 1155 80% .

ARPC2 943 100% .

ARPC3 565 100% .

ARPC4 752 98% .

ARPC4-TTLL3 2069 100% .

ARPC5 472 100% .

ARPC5L 478 68% .

ARPM1 1127 100% .

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Feb 2013

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ARPP19 351 100% .

ARPP21 2524 100% .

ARR3 1231 93% .

ARRB1 1321 92% .

ARRB2 1290 98% .

ARRDC1 1334 91% .

ARRDC2 1519 82% .

ARRDC3 1277 100% .

ARRDC4 1289 76% .

ARRDC5 1041 100% .

ARSA 1807 83% Arylsulfatase A Deficiency

ARSA 1807 83% Choriodal Dystrophy, Central Areolar 2

ARSB 1667 97% Mucopolysaccharidosis Type VI

ARSB 1667 97% Choriodal Dystrophy, Central Areolar 2

ARSD 1822 91% .

ARSE 1810 100% Chondrodysplasia Punctata 1, X-Linked

ARSE 1810 100% Choriodal Dystrophy, Central Areolar 2

ARSF 1813 100% .

ARSG 1622 100% .

ARSH 1725 100% .

ARSI 1718 99% .

ARSJ 1808 100% .

ARSK 1643 100% .

ART1 1000 100% .

ART3 1214 100% .

ART4 957 100% .

ART5 892 92% .

ARTN 866 53% .

ARV1 836 100% .

ARVCF 2957 90% .

ARX 1709 30% X-Linked Lissencephaly with Ambiguous Genitalia

ARX 1709 30% ARX-Related Disorders

ARX 1709 30% Epileptic Encephalopathy, Early Infantile, 1

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Feb 2013

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ARX 1709 30% Agenesis of Corpus Callosum with Abnormal Genitalia

AS3MT 1172 100% .

ASAH1 1399 99% Farber Lipogranulomatosis

ASAH1 1399 99% Choriodal Dystrophy, Central Areolar 2

ASAH2 2423 37% .

ASAH2B 518 24% .

ASAP1 3506 100% .

ASAP2 3133 98% .

ASAP3 2974 92% .

ASB1 1028 95% .

ASB10 1699 81% .

ASB11 1234 100% .

ASB12 938 99% .

ASB13 861 76% .

ASB14 2412 100% .

ASB15 1803 100% .

ASB16 1471 80% .

ASB17 900 100% .

ASB18 1425 51% .

ASB2 1967 95% .

ASB3 1769 100% .

ASB4 1940 100% .

ASB5 1018 100% .

ASB6 1962 100% .

ASB7 1595 100% .

ASB8 879 100% .

ASB9 1306 100% .

ASCC1 1368 91% .

ASCC2 2484 99% .

ASCC3 6872 100% .

ASCL1 715 84% .

ASCL2 586 6% .

ASCL3 550 100% .

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Feb 2013

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ASCL4 526 90% .

ASF1A 631 82% .

ASF1B 625 100% .

ASGR1 908 100% .

ASGR2 1232 100% .

ASH1L 9003 100% .

ASH2L 2101 95% .

ASIP 411 89% .

ASL 1459 98% Argininosuccinate Lyase Deficiency

ASL 1459 98% Choriodal Dystrophy, Central Areolar 2

ASMT 2316 46% .

ASMTL 4108 50% .

ASNA1 1075 99% .

ASNS 1983 100% .

ASNSD1 1944 100% .

ASPA 966 100% Canavan Disease

ASPA 966 100% Choriodal Dystrophy, Central Areolar 2

ASPDH 916 85% .

ASPG 1804 71% .

ASPH 3159 97% .

ASPHD1 1185 99% .

ASPHD2 1122 100% .

ASPM 10546 100% Primary Autosomal Recessive Microcephaly Type 5

ASPM 10546 100% Primary Autosomal Recessive Microcephaly

ASPN 1373 100% .

ASPRV1 1036 100% .

ASPSCR1 1726 84% .

ASRGL1 951 98% .

ASS1 1295 100% Citrullinemia Type I

ASS1 1295 100% Choriodal Dystrophy, Central Areolar 2

ASTE1 2056 100% .

ASTL 1332 100% .

ASTN1 4173 100% .

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Feb 2013

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ASTN2 5224 92% .

ASUN 2185 100% .

ASXL1 4684 99% Bohring-Opitz Syndrome

ASXL2 4356 100% .

ASXL3 6795 98% .

ASZ1 1480 100% .

ATAD1 1122 100% .

ATAD2 4285 99% .

ATAD2B 4690 99% .

ATAD3A 2300 68% .

ATAD3B 2011 83% .

ATAD3C 1284 98% .

ATAD5 5627 100% .

ATAT1 1435 99% .

ATCAY 1164 95% Cerebellar Ataxia, Cayman Type

ATE1 1738 100% .

ATF1 840 100% .

ATF2 1897 100% .

ATF3 1354 100% .

ATF4 1064 100% .

ATF5 857 87% .

ATF6 2077 100% .

ATF6B 2279 99% .

ATF7 1983 100% .

ATF7IP 3869 100% .

ATF7IP2 2507 100% .

ATG10 687 100% .

ATG12 439 100% .

ATG13 1742 100% .

ATG14 1519 99% .

ATG16L1 2084 94% .

ATG16L2 1932 74% .

ATG2A 5981 89% .

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Feb 2013

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ATG2B 6405 100% .

ATG3 993 100% .

ATG4A 1441 100% .

ATG4B 1450 94% .

ATG4C 1417 100% .

ATG4D 1465 83% .

ATG5 856 100% .

ATG7 2184 100% .

ATG9A 2576 100% .

ATG9B 2826 80% .

ATHL1 2266 89% .

ATIC 1843 99% .

ATL1 2295 100% Spastic Paraplegia 3A

ATL2 1916 100% .

ATL3 1678 99% .

ATM 9419 100% Ataxia-Telangiectasia

ATM 9419 100% Choriodal Dystrophy, Central Areolar 2

ATMIN 2488 93% .

ATN1 3609 91% DRPLA

ATN1 3609 91% Choriodal Dystrophy, Central Areolar 2

ATOH1 1069 100% .

ATOH7 463 95% .

ATOH8 978 93% .

ATOX1 219 98% .

ATP10A 4584 98% .

ATP10B 4474 100% .

ATP10D 4369 100% .

ATP11A 3774 99% .

ATP11B 3654 99% .

ATP11C 3582 100% .

ATP12A 3521 100% .

ATP13A1 3719 92% .

ATP13A2 4407 85% Kufor-Rakeb Syndrome

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Feb 2013

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ATP13A3 3805 100% .

ATP13A4 3711 100% .

ATP13A5 3777 100% .

ATP1A1 3295 99% .

ATP1A2 3155 100% Familial Hemiplegic Migraine

ATP1A2 3155 100% Familial Hemiplegic Migraine 2

ATP1A3 3225 99% Rapid-Onset Dystonia-Parkinsonism

ATP1A4 3328 100% .

ATP1B1 936 100% .

ATP1B2 901 97% .

ATP1B3 868 100% .

ATP1B4 1375 100% .

ATP2A1 3103 100% Brody Myopathy

ATP2A2 3501 99% Darier-White Disease

ATP2A2 3501 99% Choriodal Dystrophy, Central Areolar 2

ATP2A3 3604 87% .

ATP2B1 4217 100% .

ATP2B2 3820 100% .

ATP2B3 4226 92% .

ATP2B4 4193 100% .

ATP2C1 3765 97% Benign Chronic Pemphigus

ATP2C1 3765 97% Choriodal Dystrophy, Central Areolar 2

ATP2C2 2949 98% .

ATP4A 3196 97% .

ATP4B 904 89% .

ATP5A1 1710 100% .

ATP5B 1630 98% .

ATP5C1 941 100% .

ATP5D 523 54% .

ATP5E 164 100% Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3

ATP5F1 799 100% .

ATP5G1 427 100% .

ATP5G2 761 95% .

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Feb 2013

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ATP5G3 651 100% .

ATP5H 506 100% .

ATP5I 226 74% .

ATP5J 542 97% .

ATP5J2 365 96% .

ATP5J2-PTCD1 2333 100% .

ATP5L 324 100% .

ATP5L2 307 99% .

ATP5O 670 95% .

ATP5S 1100 100% .

ATP5SL 1020 96% .

ATP6AP1 1453 88% .

ATP6AP1L 691 100% .

ATP6AP2 1089 96% X-Linked Mental Retardation with Epilepsy

ATP6V0A1 2727 100% .

ATP6V0A2 2651 99% ATP6V0A2-Related Cutis Laxa

ATP6V0A4 2603 100% Renal Tubular Acidosis, Distal, Autosomal Recessive

ATP6V0B 738 90% .

ATP6V0C 480 97% .

ATP6V0D1 1088 100% .

ATP6V0D2 1085 100% .

ATP6V0E1 258 100% .

ATP6V0E2 752 69% .

ATP6V1A 1910 100% .

ATP6V1B1 1598 100% Distal Renal Tubular Acidosis with Progressive Nerve Deafness

ATP6V1B2 1592 99% .

ATP6V1C1 1197 100% .

ATP6V1C2 1336 100% .

ATP6V1D 780 100% .

ATP6V1E1 717 100% .

ATP6V1E2 685 100% .

ATP6V1F 456 100% .

ATP6V1G1 369 86% .

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Feb 2013

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ATP6V1G2 757 100% .

ATP6V1G3 524 100% .

ATP6V1H 1504 99% .

ATP7A 4591 100% Menkes Disease

ATP7A 4591 100% ATP7A-Related Copper Transport Disorders

ATP7A 4591 100% Choriodal Dystrophy, Central Areolar 2

ATP7B 6958 100% Wilson Disease

ATP7B 6958 100% Choriodal Dystrophy, Central Areolar 2

ATP8A1 3721 99% .

ATP8A2 3715 95% .

ATP8B1 3864 99% ATP8B1-Related Intrahepatic Cholestasis

ATP8B1 3864 99% Low Gamma-GT Familial Intrahepatic Cholestasis

ATP8B2 4317 100% .

ATP8B3 4595 97% .

ATP8B4 3687 100% .

ATP9A 3256 98% .

ATP9B 3564 97% .

ATPAF1 1090 75% .

ATPAF1-AS1 629 100% .

ATPAF2 902 100% Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1

ATPBD4 1030 97% .

ATPIF1 478 100% .

ATR 8123 100% Seckel Syndrome

ATR 8123 100% Seckel Syndrome 1

ATRIP 2428 100% .

ATRN 4842 82% .

ATRNL1 4256 98% .

ATRX 7619 100% Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

ATRX 7619 100% Mental Retardation-Hypotonic Facies Syndrome, X-Linked

ATRX 7619 100% Choriodal Dystrophy, Central Areolar 2

ATXN1 2456 100% Spinocerebellar Ataxia Type 1

ATXN1 2456 100% Choriodal Dystrophy, Central Areolar 2

ATXN10 1476 92% Spinocerebellar Ataxia Type10

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Feb 2013

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ATXN1L 2074 0% .



ATXN2L 4303 98% .



ATXN3L 1072 100% .



ATXN7L1 3000 97% .

ATXN7L2 2213 98% .

ATXN7L3 1184 100% .

ATXN7L3B 298 66% .

AUH 1060 78% 3-Methylglutaconic Aciduria Type 1

AUP1 1281 93% .

AURKA 1244 100% .

AURKAIP1 612 88% .

AURKB 1067 98% .

AURKC 1013 93% Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa

AUTS2 4001 97% .

AVEN 1113 76% .

AVIL 2536 100% .

AVL9 2011 95% .

AVP 507 44% Neurohypophyseal Diabetes Insipidus

AVPI1 452 99% .

AVPR1A 1265 100% .

AVPR1B 1283 100% .

AVPR2 2057 96% Nephrogenic Diabetes Insipidus, X-Linked

AVPR2 2057 96% Nephrogenic Diabetes Insipidus

AVPR2 2057 96% Choriodal Dystrophy, Central Areolar 2

AVPR2 2057 96% Nephrogenic Syndrome of Inappropriate Antidiuresis

AWAT1 1015 98% .

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Feb 2013

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AWAT2 1030 98% .

AXDND1 3187 100% .

AXIN1 2629 89% .

AXIN2 2572 96% Oligodontia-Colorectal Cancer Syndrome

AXL 2765 97% .

AZGP1 913 100% .

AZI1 3343 86% .

AZI2 1385 100% .

AZIN1 1387 100% .

AZU1 776 92% .

B2M 372 100% .

B3GALNT1 1000 100% .

B3GALNT2 1551 93% .

B3GALT1 985 100% .

B3GALT2 1273 100% .

B3GALT4 1141 100% .

B3GALT5 937 100% .

B3GALT6 994 48% .

B3GALTL 1557 95% Peters Plus Syndrome

B3GAT1 1021 95% .

B3GAT2 988 90% .

B3GAT3 1028 98% .

B3GNT1 1256 86% .

B3GNT2 1198 100% .

B3GNT3 1127 100% .

B3GNT4 1145 100% .

B3GNT5 1141 100% .

B3GNT6 4648 81% .

B3GNT7 1214 99% .

B3GNT8 1198 100% .

B3GNT9 1213 73% .

B3GNTL1 1134 86% .

B4GALNT1 1642 87% .

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Feb 2013

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B4GALNT2 1968 96% .

B4GALNT3 3077 93% .

B4GALNT4 3200 63% .

B4GALT1 1221 95% Congenital Disorders of Glycosylation

B4GALT1 1221 95% B4GALT1-CDG (CDG-IId)

B4GALT2 1460 100% .

B4GALT3 1206 100% .

B4GALT4 1059 100% .

B4GALT5 1203 100% .

B4GALT6 1185 100% .

B4GALT7 1008 95% .

B9D1 788 93% Meckel Syndrome

B9D1 788 93% B9D1-Related Meckel Syndrome

B9D2 540 100% Meckel Syndrome

B9D2 540 100% B9D2-Related Meckel Syndrome

BAALC 565 83% .

BAAT 1269 100% BAAT-Related Familial Hypercholanemia

BABAM1 1022 100% .

BACE1 1905 95% .

BACE2 1851 88% .

BACH1 2227 100% .

BACH2 2542 100% .

BAD 593 76% .

BAG1 1521 86% .

BAG2 648 98% .

BAG3 1744 100% Dilated Cardiomyopathy

BAG3 1744 100% Myofibrillar Myopathy

BAG3 1744 100% BAG3-Related Myofibrillar Myopathy

BAG3 1744 100% BAG3-Related Dilated Cardiomyopathy

BAG4 1394 92% .

BAG5 2851 100% .

BAG6 4432 93% .

BAGE 128 100% .

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BAGE2 351 100% .

BAGE3 351 100% .

BAGE4 128 100% .

BAGE5 128 100% .

BAHCC1 7770 80% .

BAHD1 2367 100% .

BAI1 4875 72% .

BAI2 4882 84% .

BAI3 4689 100% .

BAIAP2 1882 94% .

BAIAP2L1 1592 97% .

BAIAP2L2 1646 73% .

BAIAP3 4069 85% .

BAK1 656 89% .

BAMBI 795 93% .

BANF1 278 100% Nestor-Guillermo Progeria Syndrome

BANF2 439 95% .

BANK1 2825 98% .

BANP 2035 99% .

BAP1 2258 95% Tumor Predisposition Syndrome

BARD1 2378 100% BARD1-Related Susceptibility to Breast Cancer

BARHL1 996 99% .

BARHL2 1176 94% .

BARX1 781 56% .

BARX2 856 100% .

BASP1 688 78% .

BATF 390 100% .

BATF2 837 93% .

BATF3 396 76% .

BAX 1187 97% .

BAZ1A 4775 100% .

BAZ1B 4528 98% .

BAZ2A 5834 100% .

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BAZ2B 6647 100% .

BBC3 1317 45% .

BBIP1 702 71% .

BBOX1 1192 100% .

BBS1 1850 98% Bardet-Biedl Syndrome

BBS1 1850 98% BBS1-Related Bardet-Biedl Syndrome















BBX 2886 100% .

BCAM 2104 91% .

BCAN 3585 98% .

BCAP29 1361 100% .

BCAP31 1114 86% .

BCAR1 3838 86% .

BCAR3 2522 100% .

BCAS1 1799 100% .

BCAS2 706 100% .

BCAS3 2883 100% .

BCAS4 860 67% .

BCAT1 1258 96% Hyperleucine-Isoleucinemia

BCAT2 1223 92% Hyperleucine-Isoleucinemia

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Feb 2013

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BCCIP 1314 100% .

BCDIN3D 887 100% .

BCHE 1821 100% Butyrylcholinesterase Deficiency

BCHE 1821 100% Choriodal Dystrophy, Central Areolar 2

BCKDHA 1520 97% Maple Syrup Urine Disease

BCKDHA 1520 97% Maple Syrup Urine Disease Type 1A

BCKDHA 1520 97% Choriodal Dystrophy, Central Areolar 2

BCKDHB 1219 90% Maple Syrup Urine Disease

BCKDHB 1219 90% Maple Syrup Urine Disease Type 1B

BCKDHB 1219 90% Choriodal Dystrophy, Central Areolar 2

BCKDK 1454 100% .

BCL10 714 100% .

BCL11A 6786 100% .

BCL11B 2701 86% .

BCL2 1383 100% .

BCL2A1 708 100% .

BCL2L1 1278 100% .

BCL2L10 623 76% .

BCL2L11 1637 92% .

BCL2L12 1180 89% .

BCL2L13 1482 100% .

BCL2L14 1089 100% .

BCL2L15 508 100% .

BCL2L2 590 100% .

BCL2L2-PABPN1 1030 100% .

BCL3 1401 73% .

BCL6 2153 99% .

BCL6B 1472 100% .

BCL7A 909 98% .

BCL7B 633 95% .

BCL7C 678 100% .

BCL9 4309 100% .

BCL9L 4532 88% .

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BCLAF1 4393 100% .

BCMO1 1688 100% .

BCO2 2412 100% .

BCOR 5673 96% Lenz Microphthalmia Syndrome

BCOR 5673 96% BCOR-Related Lenz Microphthalmia Syndrome

BCOR 5673 96% Syndromic Microphthalmia 2

BCORL1 5184 97% .

BCR 3908 90% .

BCS1L 1288 100% Leigh Syndrome (nuclear DNA mutation)

BCS1L 1288 100% Gracile Syndrome

BCS1L 1288 100% Mitochondrial Respiratory Chain Complex III Deficiency, BCS1L-Related

BDH1 1056 100% .

BDH2 774 100% .

BDKRB1 1066 100% .

BDKRB2 1184 100% .

BDNF 1872 100% .

BDP1 8031 100% .

BEAN1 2003 41% .

BECN1 1397 98% .

BEGAIN 1806 78% .

BEND2 2716 95% .

BEND3 2499 100% .

BEND4 2092 77% .

BEND5 1290 86% .

BEND6 860 100% .

BEND7 1879 100% .

BEST1 3052 87% Retinitis Pigmentosa, Autosomal Dominant

BEST1 3052 87% Best Vitelliform Macular Dystrophy

BEST1 3052 87% Retinitis Pigmentosa

BEST1 3052 87% BEST1-Related Retinitis Pigmentosa

BEST1 3052 87% Vitreoretinochoroidopathy

BEST1 3052 87% Choriodal Dystrophy, Central Areolar 2

BEST2 1566 72% .

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Feb 2013

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BEST3 2202 100% .

BEST4 1458 60% .

BET1 373 100% .

BET1L 1229 98% .

BET3L 566 100% .

BEX1 382 100% .

BEX2 910 87% .

BEX4 367 100% .

BEX5 340 100% .

BFAR 1381 100% .

BFSP1 2036 80% .

BFSP2 1276 100% .

BGLAP 319 90% .

BGN 1135 99% .

BHLHA15 574 43% .

BHLHA9 712 0% .

BHLHB9 1648 100% .

BHLHE22 1150 64% .

BHLHE23 682 47% .

BHLHE40 1259 97% .

BHLHE41 1469 55% .

BHMT 1253 100% .

BHMT2 1124 97% .

BICC1 3009 100% .

BICD1 3370 100% .

BICD2 2920 95% .

BID 968 100% .

BIK 499 80% .

BIN1 1907 77% Centronuclear Myopathy 2

BIN2 1750 100% .

BIN3 798 98% .

BIRC2 1889 100% .

BIRC3 1847 100% .

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Feb 2013

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BIRC5 818 100% .

BIRC6 14870 99% .

BIRC7 1173 99% .

BIRC8 715 100% .

BIVM 1988 100% .

BIVM-ERCC5 5098 100% .

BLCAP 268 100% .

BLID 331 100% .

BLK 1566 98% .

BLM 4338 100% Bloom's Syndrome

BLMH 1416 99% .

BLNK 1439 100% .

BLOC1S1 394 100% .

BLOC1S2 570 100% .

BLOC1S3 613 49% Hermansky-Pudlak Syndrome

BLOC1S3 613 49% Hermansky-Pudlak Syndrome 8

BLVRA 919 100% .

BLVRB 641 89% .

BLZF1 1227 100% .

BMF 838 100% .

BMI1 1017 100% .

BMP1 3131 100% .

BMP10 1283 100% .

BMP15 1187 94% Ovarian Dysgenesis 2

BMP2 1199 98% .

BMP2K 3788 95% .

BMP3 1431 99% .

BMP4 1235 100% Cleft Lip +/- Cleft Palate

BMP4 1235 100% Anophthalmia/Microphthalmia

BMP4 1235 100% Orofacial Cleft11

BMP4 1235 100% Syndromic Microphthalmia 6

BMP5 1393 100% .

BMP6 1570 86% .

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BMP7 1324 83% .

BMP8A 1237 70% .

BMP8B 1260 69% .

BMPER 2118 100% .

BMPR1A 1643 100% Juvenile Polyposis Syndrome

BMPR1A 1643 100% BMPR1A-Related Juvenile Polyposis

BMPR1A 1643 100% Hereditary Mixed Polyposis Syndrome 2

BMPR1A 1643 100% Choriodal Dystrophy, Central Areolar 2

BMPR1B 1549 100% Brachydactyly Type A2

BMPR2 3169 100% Heritable Pulmonary Arterial Hypertension

BMPR2 3169 100% Choriodal Dystrophy, Central Areolar 2

BMS1 3937 100% .

BMX 2100 100% .

BNC1 3005 97% .

BNC2 3328 100% .

BNIP1 844 100% .

BNIP2 1348 79% .

BNIP3 609 92% .

BNIP3L 684 100% .

BNIPL 1349 100% .

BOC 3417 97% .

BOD1 602 82% .

BOD1L 9260 98% .

BOK 655 62% .

BOLA1 418 100% .

BOLA2 942 0% .

BOLA2B 942 0% .

BOLA3 552 89% Multiple Mitochondrial Dysfunctions Syndrome 2

BOLL 1080 100% .

BOP1 2305 11% .

BORA 1724 100% .

BPGM 788 100% .

BPHL 904 98% .

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Feb 2013

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BPI 1524 100% .

BPIFA1 799 100% .

BPIFA2 778 100% .

BPIFA3 793 100% .

BPIFB1 1515 100% .

BPIFB2 1437 97% .

BPIFB3 1491 97% .

BPIFB4 1909 99% .

BPIFB6 1422 100% .

BPIFC 1584 100% .

BPNT1 959 100% .

BPTF 10182 96% .

BPY2 1011 5% .

BPY2B 1011 5% .

BPY2C 1011 5% .

BRAF 2373 94% Cardiofaciocutaneous Syndrome

BRAF 2373 94% Noonan Syndrome

BRAF 2373 94% BRAF-Related Cardiofaciocutaneous Syndrome

BRAF 2373 94% LEOPARD Syndrome

BRAF 2373 94% BRAF-Related LEOPARD Syndrome

BRAF 2373 94% BRAF-Related Noonan Syndrome

BRAP 1827 100% .

BRAT1 2518 92% .

BRCA1 9522 100% BRCA1 Hereditary Breast and Ovarian Cancer

BRCA1 9522 100% BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer

BRCA1 9522 100% Choriodal Dystrophy, Central Areolar 2

BRCA2 10361 100% Prostate Cancer

BRCA2 10361 100% BRCA2 Hereditary Breast and Ovarian Cancer

BRCA2 10361 100% BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer

BRCA2 10361 100% BRCA2-Related Fanconi Anemia

BRCA2 10361 100% Fanconi Anemia

BRCA2 10361 100% Pancreatic Cancer Susceptibility 2

BRCA2 10361 100% Choriodal Dystrophy, Central Areolar 2

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Feb 2013

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BRCC3 1054 100% .

BRD1 3225 100% .

BRD2 2871 96% .

BRD3 2225 94% .

BRD4 4180 80% .

BRD7 2146 100% .

BRD8 4103 100% .

BRD9 2226 98% .

BRDT 3177 100% .

BRE 1407 100% .

BRF1 2658 93% .

BRF2 1276 100% .

BRI3 446 55% .

BRI3BP 768 95% .

BRIP1 3826 100% Fanconi Anemia

BRIP1 3826 100% BRIP1-Related Fanconi Anemia

BRIP1 3826 100% BRIP1-Related Breast Cancer

BRIX1 1102 95% .

BRK1 240 100% .

BRMS1 921 100% .

BRMS1L 1012 96% .

BROX 1284 100% .

BRP44 404 76% .

BRP44L 345 100% .

BRPF1 3866 99% .

BRPF3 3666 96% .

BRS3 1212 100% .

BRSK1 2413 85% .

BRSK2 2087 87% .

BRWD1 8714 99% .

BRWD3 5573 99% X-Linked Mental Retardation 93

BSCL2 1839 100% Berardinelli-Seip Congenital Lipodystrophy

BSCL2 1839 100% Berardinelli-Seip Congenital Lipodystrophy Type 2

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Feb 2013

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BSCL2 1839 100% BSCL2-Related Neurologic Disorders/Seipinopathy

BSDC1 1611 99% .

BSG 1226 82% .

BSN 11821 98% .

BSND 979 100% Bartter Syndrome Type 4A

BSPH1 419 100% .

BSPRY 1233 80% .

BST1 993 85% .

BST2 559 99% .

BSX 714 79% .

BTAF1 5702 100% .

BTBD1 1632 93% .

BTBD10 1460 100% .

BTBD11 3488 79% .

BTBD16 1581 100% .

BTBD17 1449 63% .

BTBD18 2147 0% .

BTBD19 908 74% .

BTBD2 1614 81% .

BTBD3 1915 100% .

BTBD6 1474 86% .

BTBD7 3514 100% .

BTBD8 1173 99% .

BTBD9 2730 97% .

BTC 557 88% .

BTD 1648 100% Biotinidase Deficiency

BTD 1648 100% Choriodal Dystrophy, Central Areolar 2

BTF3 645 81% .

BTF3L4 754 100% .

BTG1 524 100% .

BTG2 485 84% .

BTG3 911 99% .

BTG4 692 100% .

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Feb 2013

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BTK 2052 100% X-Linked Agammaglobulinemia

BTK 2052 100% Choriodal Dystrophy, Central Areolar 2

BTLA 890 100% .

BTN1A1 1609 100% .

BTN2A1 2006 99% .

BTN2A2 1714 98% .

BTN3A1 2032 92% .

BTN3A2 1405 100% .

BTN3A3 2143 100% .

BTNL2 1392 100% .

BTNL3 1433 86% .

BTNL8 2864 87% .

BTNL9 1648 86% .

BTRC 1874 97% .

BUB1 3358 100% .

BUB1B 3245 100% .

BUB3 1029 100% .

BUD13 2618 100% .

BUD31 451 100% .

BVES 1111 100% .

BYSL 1342 100% .

BZRAP1 5698 91% .

BZW1 1270 100% .

BZW2 1304 98% .

C10orf10 643 100% .

C10orf105 406 6% .

C10orf107 651 100% .

C10orf11 621 100% .

C10orf111 472 100% .

C10orf113 851 100% .

C10orf114 419 88% .

C10orf116 243 74% .

C10orf118 2757 100% .

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Feb 2013

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C10orf12 3748 100% .

C10orf120 1020 100% .

C10orf122 577 100% .

C10orf125 500 57% .

C10orf128 342 100% .

C10orf129 1483 100% .

C10orf131 555 97% .

C10orf137 3711 100% .

C10orf140 2731 77% .

C10orf2 2496 100% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3

C10orf2 2496 100% Infantile-Onset Spinocerebellar Ataxia

C10orf2 2496 100% C10orf2-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form

C10orf2 2496 100% Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form

C10orf2 2496 100% C10orf2-Related Ataxia Neuropathy Spectrum Disorders

C10orf25 377 100% .

C10orf26 1139 92% .

C10orf27 1092 96% .

C10orf28 2361 100% .

C10orf32 341 92% .

C10orf35 374 100% .

C10orf46 1146 99% .

C10orf47 1320 59% .

C10orf53 555 82% .

C10orf54 964 100% .

C10orf55 542 99% .

C10orf58 1074 100% .

C10orf62 676 100% .

C10orf67 578 100% .

C10orf68 1967 100% .

C10orf71 8714 98% .

C10orf76 2170 100% .

C10orf81 2241 100% .

C10orf82 481 100% .

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Feb 2013

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C10orf88 1362 92% .

C10orf90 2136 100% .

C10orf91 450 94% .

C10orf95 782 33% .

C10orf96 809 100% .

C10orf99 258 100% .

C11orf1 469 99% .

C11orf10 252 100% .

C11orf16 1424 98% .

C11orf2 2389 82% .

C11orf20 623 63% .

C11orf21 553 65% .

C11orf24 1358 100% .

C11orf30 4049 100% .

C11orf31 381 69% .

C11orf34 640 72% .

C11orf35 1961 68% .

C11orf40 670 96% .

C11orf41 5630 100% .

C11orf42 1014 100% .

C11orf45 450 100% .

C11orf46 795 100% .

C11orf48 816 96% .

C11orf49 1487 100% .

C11orf51 382 100% .

C11orf52 388 100% .

C11orf53 723 100% .

C11orf54 826 100% .

C11orf57 1414 100% .

C11orf58 572 100% .

C11orf61 1540 92% .

C11orf63 2433 100% .

C11orf65 974 100% .

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C11orf67 381 100% .

C11orf68 1654 92% .

C11orf70 1009 89% .

C11orf71 452 100% .

C11orf73 614 94% .

C11orf74 686 100% .

C11orf75 184 100% .

C11orf80 2102 91% .

C11orf82 3013 100% .

C11orf83 290 85% .

C11orf84 1170 94% .

C11orf85 683 100% .

C11orf86 356 2% .

C11orf87 598 100% .

C11orf88 619 86% .

C11orf9 3790 84% .

C11orf91 590 67% .

C11orf93 473 100% .

C11orf94 309 75% .

C11orf95 2057 2% .

C11orf96 373 42% .

C12orf10 1159 100% .

C12orf12 1225 96% .

C12orf23 359 100% .

C12orf24 850 83% .

C12orf26 1860 100% .

C12orf29 1006 100% .

C12orf34 1367 89% .

C12orf35 5256 100% .

C12orf39 375 82% .

C12orf4 1711 100% .

C12orf40 2011 100% .

C12orf42 1103 100% .

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C12orf43 813 88% .

C12orf44 665 100% .

C12orf45 574 100% .

C12orf49 638 99% .

C12orf5 837 100% .

C12orf50 1293 100% .

C12orf51 13037 93% .

C12orf52 818 99% .

C12orf53 1095 90% .

C12orf54 412 100% .

C12orf56 1921 75% .

C12orf57 393 100% .

C12orf59 508 100% .

C12orf60 742 100% .

C12orf61 400 51% .

C12orf62 178 100% .

C12orf65 509 100% Combined Oxidative Phosphorylation Deficiency 7

C12orf66 1350 100% .

C12orf68 589 73% .

C12orf69 682 100% .

C12orf70 1064 83% .

C12orf71 818 100% .

C12orf73 224 100% .

C12orf74 1122 100% .

C12orf75 212 0% .

C12orf76 424 58% .

C12orf77 454 98% .

C13orf15 434 79% .

C13orf16 476 100% .

C13orf26 898 100% .

C13orf27 704 100% .

C13orf30 432 100% .

C13orf33 932 98% .

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C13orf35 374 100% .

C14orf1 439 100% .

C14orf101 2188 93% .

C14orf102 3551 100% .

C14orf105 915 100% .

C14orf109 934 100% .

C14orf118 1529 100% .

C14orf119 427 100% .

C14orf126 519 85% .

C14orf129 428 100% .

C14orf133 1558 100% .

C14orf135 2853 100% .

C14orf142 311 100% .

C14orf149 1085 98% .

C14orf159 2272 100% .

C14orf166 767 100% .

C14orf166B 1523 100% .

C14orf169 1929 78% .

C14orf176 678 0% .

C14orf177 386 100% .

C14orf178 677 78% .

C14orf180 499 35% .

C14orf182 336 100% .

C14orf183 995 92% .

C14orf2 244 77% .

C14orf21 1951 100% .

C14orf28 949 100% .

C14orf37 2353 100% .

C14orf38 2462 91% .

C14orf39 1832 100% .

C14orf43 3182 98% .

C14orf45 1638 100% .

C14orf49 2996 95% .

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C14orf79 998 100% .

C14orf80 1381 50% .

C14orf93 1641 100% .

C15orf17 617 80% .

C15orf2 3475 100% .

C15orf23 1109 100% .

C15orf24 749 100% .

C15orf26 934 93% .

C15orf27 1636 96% .

C15orf29 951 100% .

C15orf32 549 100% .

C15orf33 1587 100% .

C15orf38 705 87% .

C15orf38-AP3S2 1225 92% .

C15orf39 3152 97% .

C15orf40 1306 81% .

C15orf41 967 96% .

C15orf42 5821 98% .

C15orf43 691 100% .

C15orf44 1862 100% .

C15orf48 268 100% .

C15orf52 1649 95% .

C15orf53 548 100% .

C15orf54 556 100% .

C15orf55 3427 100% .

C15orf56 494 50% .

C15orf57 861 100% .

C15orf58 1162 100% .

C15orf59 890 100% .

C15orf60 825 97% .

C15orf61 482 87% .

C15orf62 532 93% .

C15orf63 506 100% .

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C16orf11 1724 78% .

C16orf13 833 53% .

C16orf3 358 66% .

C16orf42 963 78% .

C16orf45 698 91% .

C16orf46 2206 100% .

C16orf48 1069 89% .

C16orf5 1081 75% .

C16orf52 516 42% .

C16orf53 777 67% .

C16orf54 679 45% .

C16orf55 432 91% .

C16orf57 826 93% .

C16orf58 1459 89% .

C16orf59 1342 82% .

C16orf61 252 100% .

C16orf62 3283 96% .

C16orf7 1956 70% .

C16orf70 1333 95% .

C16orf71 1595 98% .

C16orf72 844 77% .

C16orf73 1468 100% .

C16orf74 243 64% .

C16orf78 818 98% .

C16orf79 711 89% .

C16orf80 606 100% .

C16orf82 469 87% .

C16orf86 970 90% .

C16orf87 481 100% .

C16orf88 1393 100% .

C16orf89 1376 82% .

C16orf90 561 100% .

C16orf91 1091 100% .

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C16orf92 740 98% .

C16orf93 1336 80% .

C16orf95 939 72% .

C16orf96 3490 21% .

C17orf100 360 86% .

C17orf101 1173 90% .

C17orf102 512 100% .

C17orf103 353 69% .

C17orf104 2891 97% .

C17orf105 515 0% .

C17orf107 585 45% .

C17orf108 249 100% .

C17orf109 242 46% .

C17orf110 193 0% .

C17orf28 2443 82% .

C17orf39 927 73% .

C17orf46 1175 100% .

C17orf47 1721 100% .

C17orf48 1041 100% .

C17orf49 672 93% .

C17orf50 537 30% .

C17orf51 674 100% .

C17orf53 2100 100% .

C17orf56 1626 67% .

C17orf57 3168 100% .

C17orf58 659 100% .

C17orf59 1078 88% .

C17orf61 358 92% .

C17orf62 588 83% .

C17orf63 1697 98% .

C17orf64 735 93% .

C17orf65 586 49% .

C17orf66 1773 100% .

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C17orf67 357 100% .

C17orf70 2682 83% .

C17orf72 1441 2% .

C17orf74 1518 100% .

C17orf75 1231 100% .

C17orf77 736 100% .

C17orf78 856 100% .

C17orf79 571 82% .

C17orf80 1873 100% .

C17orf81 1293 100% .

C17orf82 760 84% .

C17orf85 1915 97% .

C17orf89 237 14% .

C17orf90 452 89% .

C17orf96 1144 15% .

C17orf97 1280 76% .

C17orf98 477 100% .

C17orf99 818 88% .

C18orf1 1188 96% .

C18orf21 1063 100% .

C18orf25 1228 100% .

C18orf26 645 100% .

C18orf32 262 100% .

C18orf34 2688 100% .

C18orf42 218 0% .

C18orf54 1147 100% .

C18orf56 509 35% .

C18orf62 318 100% .

C18orf63 2106 100% .

C18orf8 2054 100% .

C19orf10 546 88% .

C19orf12 1185 98% Mitochondrial Membrane Protein-Associated Neurodegeneration

C19orf18 672 100% .

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C19orf21 2056 98% .

C19orf24 411 30% .

C19orf25 365 83% .

C19orf26 1376 81% .

C19orf29 2317 92% .

C19orf33 337 93% .

C19orf35 1434 48% .

C19orf38 721 89% .

C19orf40 664 100% .

C19orf42 248 100% .

C19orf43 543 38% .

C19orf44 2002 99% .

C19orf45 1550 89% .

C19orf46 1247 86% .

C19orf47 1117 95% .

C19orf48 358 100% .

C19orf51 1815 74% .

C19orf52 791 51% .

C19orf53 312 100% .

C19orf54 1080 85% .

C19orf55 1755 99% .

C19orf57 1942 97% .

C19orf59 592 100% .

C19orf6 2457 46% .

C19orf60 901 45% .

C19orf63 908 73% .

C19orf66 908 90% .

C19orf69 401 98% .

C19orf70 373 73% .

C19orf71 646 34% .

C19orf73 394 100% .

C19orf75 614 100% .

C19orf76 470 23% .

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C19orf77 409 77% .

C19orf79 238 44% .

C19orf80 613 75% .

C19orf81 617 45% .

C1D 442 100% .

C1GALT1 1104 100% .

C1GALT1C1 961 100% .

C1orf100 460 100% .

C1orf101 3113 98% .

C1orf105 580 100% .

C1orf106 2185 79% .

C1orf109 628 100% .

C1orf110 921 100% .

C1orf111 798 100% .

C1orf112 2650 100% .

C1orf114 1547 100% .

C1orf115 437 46% .

C1orf116 3345 100% .

C1orf122 551 28% .

C1orf123 515 100% .

C1orf124 1832 100% .

C1orf127 2520 80% .

C1orf129 3047 71% .

C1orf130 321 100% .

C1orf131 910 100% .

C1orf135 1086 93% .

C1orf141 1227 100% .

C1orf144 530 79% .

C1orf146 563 100% .

C1orf150 428 100% .

C1orf151-NBL1 770 84% .

C1orf158 601 100% .

C1orf159 629 67% .

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C1orf162 488 100% .

C1orf168 2267 100% .

C1orf172 1209 100% .

C1orf173 4649 99% .

C1orf174 748 100% .

C1orf177 1362 94% .

C1orf182 390 100% .

C1orf185 620 100% .

C1orf186 539 100% .

C1orf187 1074 99% .

C1orf189 322 100% .

C1orf190 728 100% .

C1orf192 554 100% .

C1orf194 494 100% .

C1orf198 1884 94% .

C1orf201 1217 100% .

C1orf204 732 66% .

C1orf21 386 100% .

C1orf210 350 100% .

C1orf212 283 46% .

C1orf216 694 100% .

C1orf226 1292 91% .

C1orf227 305 100% .

C1orf228 1367 82% .

C1orf229 718 1% .

C1orf27 1417 100% .

C1orf31 554 100% .

C1orf35 824 75% .

C1orf38 2117 95% .

C1orf43 790 100% .

C1orf49 928 95% .

C1orf50 620 83% .

C1orf51 1178 100% .

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C1orf52 561 98% .

C1orf53 450 88% .

C1orf54 416 100% .

C1orf55 1384 100% .

C1orf56 1034 100% .

C1orf61 491 88% .

C1orf63 889 100% .

C1orf64 518 97% .

C1orf65 1876 92% .

C1orf68 757 100% .

C1orf74 814 100% .

C1orf85 1245 96% .

C1orf86 992 93% .

C1orf87 1685 100% .

C1orf88 600 100% .

C1orf9 3861 99% .

C1orf94 2518 83% .

C1orf95 442 87% .

C1orf96 825 87% .

C1QA 746 93% .

C1QB 770 100% .

C1QBP 873 73% .

C1QC 746 87% .

C1QL1 785 96% .

C1QL2 872 71% .

C1QL3 776 92% .

C1QL4 725 76% .

C1QTNF1 1002 100% .

C1QTNF2 1005 94% .

C1QTNF3 1291 100% .

C1QTNF4 994 68% .

C1QTNF5 740 65% Late-Onset Retinal Degeneration

C1QTNF6 849 100% .

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C1QTNF7 1153 99% .

C1QTNF8 767 93% .

C1QTNF9 1014 98% .

C1QTNF9B 1014 100% .

C1QTNF9B-AS1 2331 100% .

C1R 1922 96% .

C1RL 1488 95% .

C1S 2111 100% .

C2 3715 99% Age-Related Macular Degeneration

C2 3715 99% Complement Component C2 Deficiency

C20orf11 703 100% .

C20orf111 891 100% .

C20orf112 1339 96% .

C20orf118 672 100% .

C20orf123 1713 48% .

C20orf132 3386 92% .

C20orf141 506 100% .

C20orf144 470 44% .

C20orf151 2047 58% .

C20orf152 2063 99% .

C20orf160 1334 61% .

C20orf166 366 96% .

C20orf173 625 100% .

C20orf177 2312 100% .

C20orf194 3682 96% .

C20orf195 961 100% .

C20orf196 626 100% .

C20orf197 389 100% .

C20orf20 635 76% .

C20orf201 731 26% .

C20orf202 377 100% .

C20orf203 593 93% .

C20orf24 1204 90% .

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C20orf26 3850 100% .

C20orf27 620 100% .

C20orf29 611 100% .

C20orf3 1287 93% .

C20orf30 690 74% .

C20orf4 1167 100% .

C20orf43 957 92% .

C20orf54 1426 93% .

C20orf7 1174 100% .

C20orf72 1051 100% .

C20orf79 475 100% .

C20orf85 430 97% .

C20orf94 1255 100% .

C20orf96 1160 95% .

C21orf2 799 79% .

C21orf33 835 89% Anophthalmia/Microphthalmia

C21orf56 1394 86% .

C21orf58 1001 66% .

C21orf59 901 94% .

C21orf62 664 100% .

C21orf63 1358 95% .

C21orf7 757 76% .

C21orf91 1252 100% .

C22orf13 747 92% .

C22orf15 471 96% .

C22orf23 678 100% .

C22orf24 491 98% .

C22orf25 863 87% .

C22orf26 425 21% .

C22orf28 1566 100% .

C22orf29 1099 99% .

C22orf31 885 100% .

C22orf32 332 100% .

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C22orf33 1334 100% .

C22orf39 496 76% .

C22orf40 384 100% .

C22orf42 792 90% .

C22orf43 738 99% .

C22orf46 740 8% .

C2CD2 2265 89% .

C2CD2L 2180 94% .

C2CD3 6016 100% .

C2CD4A 1114 39% .

C2CD4B 1099 25% .

C2CD4C 1270 20% .

C2CD4D 1066 0% .

C2orf15 386 100% .

C2orf16 5959 100% .

C2orf18 1140 93% .

C2orf27A 620 5% .

C2orf27B 638 8% .

C2orf28 1277 61% .

C2orf29 1561 93% .

C2orf40 463 82% .

C2orf42 1757 100% .

C2orf43 1002 100% .

C2orf44 2412 100% .

C2orf47 896 100% .

C2orf48 492 88% .

C2orf49 715 96% .

C2orf50 501 100% .

C2orf51 555 100% .

C2orf53 1243 100% .

C2orf54 1378 97% .

C2orf55 2925 67% .

C2orf56 1584 100% .

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C2orf57 1192 100% .

C2orf61 864 100% .

C2orf62 1204 99% .

C2orf63 1943 100% .

C2orf65 1633 99% .

C2orf66 362 100% .

C2orf67 3020 100% .

C2orf68 517 100% .

C2orf69 1166 73% .

C2orf70 622 89% .

C2orf71 3875 99% Retinitis Pigmentosa, Autosomal Recessive

C2orf71 3875 99% Retinitis Pigmentosa

C2orf71 3875 99% C2orf71-Related Retinitis Pigmentosa

C2orf72 900 27% .

C2orf73 884 100% .

C2orf74 786 85% .

C2orf76 401 100% .

C2orf77 1695 100% .

C2orf78 2781 100% .

C2orf80 614 100% .

C2orf81 1783 67% .

C2orf82 378 6% .

C2orf83 831 91% .

C2orf84 641 100% .

C2orf88 292 100% .

C2orf89 1395 99% .

C3 5156 99% Age-Related Macular Degeneration

C3 5156 99% Atypical Hemolytic-Uremic Syndrome

C3 5156 99% C3 Deficiency, Autosomal Recessive

C3 5156 99% Age-Related Macular Degeneration 9

C3 5156 99% C3-Related Atypical Hemolytic-Uremic Syndrome

C3AR1 1453 100% .

C3orf14 403 100% .

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C3orf15 2372 99% .

C3orf17 1740 100% .

C3orf18 743 94% .

C3orf19 1448 100% .

C3orf20 3263 100% .

C3orf22 438 100% .

C3orf23 1583 100% .

C3orf24 538 100% .

C3orf25 1755 100% .

C3orf26 894 98% .

C3orf27 454 100% .

C3orf30 1623 100% .

C3orf32 1098 90% .

C3orf33 772 100% .

C3orf35 1019 100% .

C3orf36 502 100% .

C3orf37 1089 100% .

C3orf38 1002 100% .

C3orf39 1747 100% .

C3orf43 657 100% .

C3orf45 511 100% .

C3orf52 1391 71% .

C3orf55 818 50% .

C3orf58 1339 92% .

C3orf62 816 100% .

C3orf64 1380 100% .

C3orf67 1740 100% .

C3orf70 761 100% .

C3orf71 877 82% .

C3orf72 540 82% .

C3orf75 829 100% .

C3orf77 5159 99% .

C3orf78 221 100% .

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C3orf79 315 100% .

C3orf80 748 70% .

C4A 11180 20% .

C4B 10798 20% .

C4BPA 1838 100% .

C4BPB 961 100% .

C4orf17 1112 100% .

C4orf19 953 100% .

C4orf21 6423 100% .

C4orf22 726 100% .

C4orf26 731 100% .

C4orf27 1073 98% .

C4orf29 1285 100% .

C4orf3 1014 100% .

C4orf32 407 62% .

C4orf33 620 100% .

C4orf34 316 100% .

C4orf36 366 100% .

C4orf37 1424 100% .

C4orf39 478 84% .

C4orf40 676 100% .

C4orf43 640 100% .

C4orf44 849 55% .

C4orf45 581 100% .

C4orf46 350 99% .

C4orf47 958 51% .

C4orf48 565 13% .

C4orf49 739 100% .

C4orf51 633 100% .

C4orf52 216 100% .

C4orf6 290 100% .

C5 5195 100% .

C5AR1 1060 100% .

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C5orf15 810 100% .

C5orf20 739 100% .

C5orf22 1365 100% .

C5orf24 571 100% .

C5orf25 1410 91% .

C5orf28 656 100% .

C5orf30 625 100% .

C5orf32 302 100% .

C5orf34 1965 100% .

C5orf35 932 99% .

C5orf38 433 87% .

C5orf39 586 100% .

C5orf4 1034 100% .

C5orf41 3107 100% .

C5orf42 9798 100% Joubert Syndrome and Related Disorders

C5orf42 9798 100% C5orf42-Related Joubert Syndrome

C5orf43 229 100% .

C5orf44 1464 98% .

C5orf45 1060 92% .

C5orf46 276 99% .

C5orf47 547 42% .

C5orf48 417 100% .

C5orf49 456 77% .

C5orf51 909 100% .

C5orf52 492 100% .

C5orf54 1789 100% .

C5orf55 364 100% .

C5orf58 321 100% .

C5orf60 854 55% .

C5orf62 187 100% .

C5orf63 610 59% .

C5orf64 405 90% .

C5orf65 3052 0% .

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C6 2873 100% .

C6orf1 492 96% .

C6orf10 1488 100% .

C6orf103 5148 94% .

C6orf105 775 93% .

C6orf106 917 100% .

C6orf108 798 82% .

C6orf115 254 100% .

C6orf118 1446 100% .

C6orf120 580 96% .

C6orf125 397 100% .

C6orf126 315 72% .

C6orf127 378 86% .

C6orf130 479 100% .

C6orf132 3587 12% .

C6orf136 2134 59% .

C6orf138 2586 99% .

C6orf141 739 38% .

C6orf146 1551 100% .

C6orf15 986 93% .

C6orf162 302 100% .

C6orf163 1010 100% .

C6orf165 1917 100% .

C6orf168 1254 100% .

C6orf170 3902 100% .

C6orf174 2868 89% .

C6orf186 1121 73% .

C6orf191 407 100% .

C6orf192 1427 97% .

C6orf195 388 100% .

C6orf201 439 100% .

C6orf203 1240 99% .

C6orf211 1346 100% .

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C6orf221 666 100% .

C6orf222 2003 100% .

C6orf223 1041 79% .

C6orf225 251 100% .

C6orf226 310 100% .

C6orf228 284 0% .

C6orf25 1171 99% .

C6orf47 889 100% .

C6orf48 236 100% .

C6orf52 475 100% .

C6orf57 339 88% .

C6orf58 1017 100% .

C6orf62 710 100% .

C6orf70 2109 100% .

C6orf72 1025 89% .

C6orf89 1097 99% .

C6orf94 697 95% .

C6orf97 2192 97% .

C6orf99 386 100% .

C7 2604 100% .

C7orf10 1656 99% .

C7orf11 548 45% .

C7orf23 373 100% .

C7orf25 2739 94% .

C7orf26 1374 96% .

C7orf29 715 100% .

C7orf30 721 96% .

C7orf31 1809 100% .

C7orf33 546 100% .

C7orf34 452 100% .

C7orf41 408 100% .

C7orf42 969 100% .

C7orf43 1787 73% .

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C7orf44 461 100% .

C7orf45 747 100% .

C7orf46 925 93% .

C7orf49 787 100% .

C7orf50 601 95% .

C7orf53 408 100% .

C7orf55 350 100% .

C7orf57 920 100% .

C7orf58 3215 100% .

C7orf59 316 96% .

C7orf60 1238 100% .

C7orf61 633 100% .

C7orf62 766 100% .

C7orf63 3021 100% .

C7orf65 468 100% .

C7orf66 356 100% .

C7orf69 381 71% .

C7orf70 784 100% .

C7orf71 522 90% .

C7orf72 1353 100% .

C7orf73 156 0% .

C8A 1799 100% .

C8B 1824 100% .

C8G 637 84% .

C8orf22 262 100% .

C8orf31 415 100% .

C8orf33 710 100% .

C8orf34 1878 96% .

C8orf37 648 100% Retinitis Pigmentosa

C8orf37 648 100% Cone-Rod Dystrophy 16

C8orf37 648 100% C8orf37-Related Retinitis Pigmentosa

C8orf38 1038 81% .

C8orf4 325 100% .

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C8orf40 336 100% .

C8orf42 920 93% .

C8orf44 488 100% .

C8orf44-SGK3 1555 100% .

C8orf45 2411 100% .

C8orf46 648 77% .

C8orf47 1137 95% .

C8orf48 964 100% .

C8orf55 635 21% .

C8orf58 1353 93% .

C8orf59 309 100% .

C8orf73 2216 61% .

C8orf74 901 99% .

C8orf76 1167 100% .

C8orf80 2463 99% .

C8orf82 663 26% .

C8orf83 273 100% .

C8orf84 815 99% .

C8orf85 476 84% .

C8orf86 684 100% .

C9 1724 100% .

C9orf100 1044 87% .

C9orf102 2195 99% .

C9orf103 632 91% .

C9orf106 703 98% .

C9orf11 917 100% .

C9orf114 1179 94% .

C9orf116 616 93% .

C9orf117 1599 90% .

C9orf123 347 100% .

C9orf125 1216 100% .

C9orf128 1233 99% .

C9orf129 607 86% .

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C9orf131 3734 100% .

C9orf135 714 100% .

C9orf139 581 100% .

C9orf140 1209 41% .

C9orf142 643 71% .

C9orf150 695 96% .

C9orf152 728 100% .

C9orf153 318 100% .

C9orf156 1346 96% .

C9orf16 260 67% .

C9orf163 616 89% .

C9orf167 1276 50% .

C9orf169 439 100% .

C9orf170 374 100% .

C9orf171 991 97% .

C9orf172 2935 56% .

C9orf173 951 96% .

C9orf174 5254 98% .

C9orf21 705 65% .

C9orf23 496 100% .

C9orf24 1471 97% .

C9orf25 913 97% .

C9orf3 2564 98% .

C9orf30 902 100% .

C9orf30-TMEFF1 1405 100% .

C9orf37 535 82% .

C9orf4 1055 64% .

C9orf40 593 67% .

C9orf41 1262 95% .

C9orf43 1438 100% .

C9orf46 460 100% .

C9orf47 871 71% .

C9orf5 2712 85% .

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C9orf50 1324 67% .

C9orf57 506 100% .

C9orf64 1042 100% .

C9orf66 892 82% .

C9orf68 1041 100% .

C9orf69 412 86% .

C9orf7 634 60% .

C9orf71 521 100% .

C9orf72 1563 100% Amyotrophic Lateral Sclerosis

C9orf72 1563 100% C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

C9orf78 906 100% .

C9orf79 4354 100% .

C9orf80 331 100% .

C9orf82 1315 98% .

C9orf84 4572 100% .

C9orf85 490 100% .

C9orf86 2610 86% .

C9orf89 576 85% .

C9orf9 523 100% .

C9orf91 1061 100% .

C9orf93 4081 100% .

C9orf95 632 100% .

C9orf96 2115 97% .

CA1 814 100% .

CA10 1023 100% .

CA11 1023 95% .

CA12 1109 100% .

CA13 817 100% .

CA14 1058 100% .

CA2 811 95% Osteopetrosis with Renal Tubular Acidosis

CA3 811 95% .

CA4 971 100% Retinitis Pigmentosa, Autosomal Dominant

CA4 971 100% Retinitis Pigmentosa

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CA4 971 100% CA4-Related Retinitis Pigmentosa

CA5A 946 100% .

CA5B 982 100% .

CA6 959 100% .

CA7 1025 96% .

CA8 905 100% .

CA9 1424 100% .

CAB39 1058 100% .

CAB39L 1046 100% .

CABIN1 6807 96% .

CABLES1 2093 73% .

CABLES2 1477 75% .

CABP1 1370 52% .

CABP2 691 68% .

CABP4 852 87% CABP4-Related Autosomal Recessive Congenital Stationary Night Blindness

CABP4 852 87% Congenital Stationary Night Blindness, Type 2B

CABP5 546 100% .

CABP7 668 94% .

CABS1 1192 100% .

CABYR 5277 100% .

CACHD1 3780 100% .

CACNA1A 8868 80% Familial Hemiplegic Migraine

CACNA1A 8868 80% Spinocerebellar Ataxia Type 6

CACNA1A 8868 80% CACNA1A-Related Episodic Ataxia Type 2

CACNA1A 8868 80% Familial Hemiplegic Migraine 1

CACNA1A 8868 80% Episodic Ataxia Type 2

CACNA1A 8868 80% Choriodal Dystrophy, Central Areolar 2

CACNA1B 7739 89% .

CACNA1C 7965 100% Brugada Syndrome

CACNA1C 7965 100% Timothy Syndrome

CACNA1C 7965 100% Brugada Syndrome 3

CACNA1D 6850 99% .

CACNA1E 7001 99% .

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Feb 2013

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CACNA1F 6126 84% Congenital Stationary Night Blindness, X-Linked

CACNA1F 6126 84% CACNA1F-Related X-Linked Congenital Stationary Night Blindness

CACNA1F 6126 84% X-linked Cone-Rod Dystrophy 3

CACNA1G 10790 97% .

CACNA1H 7198 87% Epilepsy, Childhood Absence, Susceptibility to, 6

CACNA1I 6820 82% .

CACNA1S 5798 98% Hypokalemic Periodic Paralysis

CACNA1S 5798 98% Malignant Hyperthermia Susceptibility

CACNA1S 5798 98% Hypokalemic Periodic Paralysis Type 1

CACNA1S 5798 98% CACNA1S-Related Malignant Hyperthermia Susceptibility

CACNA1S 5798 98% Choriodal Dystrophy, Central Areolar 2

CACNA2D1 3432 100% .

CACNA2D2 3708 89% .

CACNA2D3 3428 96% .

CACNA2D4 3566 96% Retinal Cone Dystrophy 4

CACNB1 2412 91% .

CACNB2 2349 94% Brugada Syndrome

CACNB2 2349 94% Brugada Syndrome 4

CACNB3 1507 100% .

CACNB4 1681 96% Juvenile Myoclonic Epilepsy

CACNB4 1681 96% CACNB4-Related Episodic Ataxia Type 2

CACNB4 1681 96% CACNB4-Related Juvenile Myoclonic Epilepsy

CACNB4 1681 96% Episodic Ataxia Type 5

CACNB4 1681 96% Choriodal Dystrophy, Central Areolar 2

CACNG1 685 100% .

CACNG2 988 99% .

CACNG3 964 100% .

CACNG4 1000 99% .

CACNG5 1894 100% .

CACNG6 799 76% .

CACNG7 848 100% .

CACNG8 1294 59% .

CACYBP 935 100% .

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CAD 6854 99% .

CADM1 1369 91% .

CADM2 1490 100% .

CADM3 1339 93% .

CADM4 1203 94% .

CADPS 4396 95% .

CADPS2 4470 95% .

CAGE1 3086 97% .

CALB1 830 100% .

CALB2 936 100% .

CALCA 602 100% .

CALCB 396 100% .

CALCOCO1 2327 100% .

CALCOCO2 1389 100% .

CALCR 1664 98% .

CALCRL 1434 100% .

CALD1 3671 99% .

CALHM1 1049 100% .

CALHM2 980 100% .

CALHM3 1047 86% .

CALM1 474 99% .

CALM2 474 100% .

CALM3 474 99% .

CALML3 454 100% .

CALML4 611 100% .

CALML5 445 97% .

CALML6 570 90% .

CALN1 939 100% .

CALR 1290 100% .

CALR3 1191 100% .

CALU 1714 99% .

CALY 670 50% .

CAMK1 1402 99% .

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CAMK1D 1394 100% .

CAMK1G 1475 100% .

CAMK2A 1546 98% .

CAMK2B 2240 84% .

CAMK2D 1904 97% .

CAMK2G 1928 88% .

CAMK2N1 245 67% .

CAMK2N2 248 87% .

CAMK4 1466 100% .

CAMKK1 1812 96% .

CAMKK2 2016 96% .

CAMKMT 1016 87% .

CAMKV 1546 100% .

CAMLG 907 100% .

CAMP 529 100% .

CAMSAP1 4877 97% .

CAMSAP2 4505 100% .

CAMSAP3 3907 71% .

CAMTA1 5127 99% .

CAMTA2 4157 99% .

CAND1 3753 100% .

CAND2 3945 92% .

CANT1 1218 99% Desbuquois Dysplasia

CANX 1835 100% .

CAP1 1476 100% .

CAP2 1482 100% .

CAPG 1237 98% .

CAPN1 2229 97% .

CAPN10 2067 90% .

CAPN11 2312 100% .

CAPN12 2244 80% .

CAPN13 2094 99% .

CAPN14 2139 93% .

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CAPN2 2194 94% .

CAPN3 2624 97% Limb-Girdle Muscular Dystrophies, Autosomal Recessive

CAPN3 2624 97% Calpainopathy

CAPN5 1971 99% .

CAPN6 1974 100% .

CAPN7 2526 96% .

CAPN8 1854 98% .

CAPN9 2153 100% .

CAPNS1 847 79% .

CAPNS2 751 100% .

CAPRIN1 2310 100% .

CAPRIN2 4409 100% .

CAPS 797 100% .

CAPS2 1746 100% .

CAPSL 643 100% .

CAPZA1 901 100% .

CAPZA2 901 95% .

CAPZA3 904 100% .

CAPZB 855 99% .

CARD10 3179 86% .

CARD11 3561 97% .

CARD14 3794 83% .

CARD16 630 100% .

CARD17 345 100% .

CARD18 281 100% .

CARD6 3126 100% .

CARD8 1869 100% .

CARD9 1712 83% .

CARHSP1 456 97% .

CARKD 1497 93% .

CARM1 1891 84% .

CARNS1 3381 53% .

CARS 2831 100% .

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CARS2 1755 90% .

CARTPT 363 100% .

CASC1 2790 100% .

CASC3 2164 95% .

CASC4 1351 100% .

CASC5 7133 98% .

CASD1 2466 94% .

CASK 2974 100% FG Syndrome 4

CASK 2974 100% Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia

CASKIN1 4376 58% .

CASKIN2 3835 93% .

CASP1 1522 100% .

CASP10 1873 100% CASP10-Related Autoimmune Lymphoproliferative Syndrome

CASP10 1873 100% Autoimmune Lymphoproliferative Syndrome

CASP12 1054 100% .

CASP14 753 100% .

CASP2 1983 100% .

CASP3 858 100% .

CASP4 1425 100% .

CASP5 1597 100% .

CASP6 910 98% .

CASP7 1531 95% .

CASP8 2234 100% Caspase 8 Deficiency

CASP8AP2 5937 100% .

CASP9 1577 91% .

CASQ1 1235 100% .

CASQ2 1244 100% Catecholaminergic Polymorphic Ventricular Tachycardia

CASQ2 1244 100% CASQ2-Related Catecholaminergic Polymorphic Ventricular Tachycardia

CASQ2 1244 100% Choriodal Dystrophy, Central Areolar 2

CASR 3449 100% Familial Hypocalciuric Hypercalcemia, Type I

CASR 3449 100% Neonatal Severe Primary Hyperparathyroidism

CASR 3449 100% Autosomal Dominant Hypocalcemia

CASR 3449 100% CASR-Associated Familial Isolated Hypoparathyroidism

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CASR 3449 100% CASR-Related Disorders

CASR 3449 100% CASR-Related Familial Isolated Hypoparathyroidism

CASR 3449 100% Familial Isolated Hypoparathyroidism

CASR 3449 100% Epilepsy, Idiopathic Generalized, Susceptibility to, 8

CASR 3449 100% Choriodal Dystrophy, Central Areolar 2

CASR 3449 100% Hypocalciuric Hypercalcemia, Type I

CASS4 2812 100% .

CAST 2564 97% .

CASZ1 5703 90% .

CAT 1636 98% .

CATSPER1 2391 100% CATSPER-Related Nonsyndromic Male Infertility

CATSPER1 2391 100% CATSPER-Related Male Infertility

CATSPER2 2118 88% Deafness-Infertility Syndrome

CATSPER2 2118 88% CATSPER-Related Male Infertility

CATSPER3 1229 100% .

CATSPER4 1459 100% .

CATSPERB 3455 100% .

CATSPERG 3592 96% .

CAV1 718 100% .

CAV2 1078 97% .

CAV3 464 100% Romano-Ward Syndrome

CAV3 464 100% Limb-Girdle Muscular Dystrophies, Autosomal Dominant

CAV3 464 100% Caveolinopathies

CAV3 464 100% Long QT Syndrome 9

CAV3 464 100% CAV3-Related Sudden Infant Death Syndrome

CAV3 464 100% Choriodal Dystrophy, Central Areolar 2

CBFA2T2 2045 98% .

CBFA2T3 2167 69% .

CBFB 823 99% .

CBL 2785 93% Noonan-Like Syndrome Disorder with or without Juvenile Myelomonocytic Leukemia

CBLB 3021 100% .

CBLC 1465 91% .

CBLL1 1500 99% .

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CBLN1 594 99% .

CBLN2 687 91% .

CBLN3 630 82% .

CBLN4 618 98% .

CBR1 846 95% .

CBR3 846 98% .

CBR4 734 100% .

CBS 1716 88% Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

CBS 1716 88% Choriodal Dystrophy, Central Areolar 2

CBWD1 1298 97% .

CBWD2 1248 95% .

CBWD3 2496 47% .

CBWD5 1096 32% .

CBWD6 1248 54% .

CBX1 574 100% .

CBX2 2425 97% .

CBX3 572 100% .

CBX4 1703 90% .

CBX5 592 100% .

CBX6 1259 88% .

CBX7 780 80% .

CBX8 1190 97% .

CBY1 397 100% .

CBY3 737 54% .

CC2D1A 2972 96% .

CC2D1B 2669 99% .

CC2D2A 5303 92% Meckel Syndrome

CC2D2A 5303 92% Joubert Syndrome and Related Disorders

CC2D2A 5303 92% CC2D2A-Related Joubert Syndrome

CC2D2A 5303 92% CC2D2A-Related Meckel Syndrome

CC2D2B 1246 100% .

CCAR1 3549 100% .

CCBE1 1265 89% Hennekam Lymphangiectasia-Lymphedema Syndrome

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Feb 2013

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CCBL1 1317 100% .

CCBL2 1480 100% .

CCBP2 1159 100% .

CCDC101 918 100% .

CCDC102A 1685 77% .

CCDC102B 1570 100% .

CCDC103 741 93% Primary Ciliary Dyskinesia

CCDC103 741 93% Primary Ciliary Dyskinesia17: CCDC103-Related Primary Ciliary Dyskinesia

CCDC104 1069 100% .

CCDC105 1528 73% .

CCDC106 863 96% .

CCDC107 2656 92% .

CCDC108 6603 95% .

CCDC109B 1043 90% .

CCDC11 1577 100% .

CCDC110 2530 100% .

CCDC111 1731 100% .

CCDC112 1756 97% .

CCDC113 1170 95% .

CCDC114 2065 98% .

CCDC115 563 100% .

CCDC116 1858 96% .

CCDC117 860 78% .

CCDC12 568 99% .

CCDC120 3038 62% .

CCDC121 2290 94% .

CCDC122 842 100% .

CCDC124 688 55% .

CCDC125 1580 100% .

CCDC126 431 100% .

CCDC127 791 100% .

CCDC129 3187 98% .

CCDC13 2208 96% .

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CCDC130 1227 100% .

CCDC132 3236 100% .

CCDC134 714 100% .

CCDC135 2693 100% .

CCDC136 3881 94% .

CCDC137 894 72% .

CCDC138 2058 95% .

CCDC14 2787 100% .

CCDC140 496 100% .

CCDC141 4689 100% .

CCDC142 2268 96% .

CCDC144A 4356 96% .

CCDC144NL 682 98% .

CCDC146 2940 100% .

CCDC147 2691 100% .

CCDC148 1971 97% .

CCDC149 1705 92% .

CCDC15 2916 100% .

CCDC150 3418 100% .

CCDC151 1840 97% .

CCDC152 797 100% .

CCDC153 657 59% .

CCDC154 2072 50% .

CCDC155 1765 94% .

CCDC157 2299 83% .

CCDC158 3434 100% .

CCDC159 938 73% .

CCDC160 982 100% .

CCDC164 2291 100% .

CCDC165 4817 100% .

CCDC166 1328 0% .

CCDC167 310 100% .

CCDC168 21262 7% .

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CCDC169 1022 100% .

CCDC169-SOHLH2 1812 100% .

CCDC17 2148 92% .

CCDC18 4010 100% .

CCDC19 1704 100% .

CCDC22 1952 70% .

CCDC23 209 100% .

CCDC24 956 84% .

CCDC25 663 95% .

CCDC27 2019 92% .

CCDC28A 849 100% .

CCDC28B 623 100% .

CCDC3 825 69% .

CCDC30 2412 99% .

CCDC33 2809 99% .

CCDC34 1426 100% .

CCDC36 1813 100% .

CCDC37 1900 99% .

CCDC38 1752 100% .





CCDC41 2166 100% .

CCDC42 979 100% .

CCDC42B 955 41% .

CCDC43 887 100% .

CCDC47 1500 100% .

CCDC48 1829 29% .

CCDC50 1497 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

CCDC50 1497 100% DFNA44 Nonsyndromic Hearing Loss and Deafness

CCDC51 1248 100% .

CCDC53 613 100% .

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CCDC54 991 100% .

CCDC56 329 100% .

CCDC57 2812 99% .

CCDC58 455 100% .

CCDC59 742 100% .

CCDC6 1461 100% .

CCDC60 1709 100% .

CCDC61 1656 85% .

CCDC62 2103 98% .

CCDC63 1736 100% .

CCDC64 1758 79% .

CCDC64B 1563 67% .

CCDC65 1487 100% .

CCDC66 2919 100% .

CCDC67 1867 100% .

CCDC68 1048 100% .

CCDC69 927 100% .

CCDC7 1529 100% .

CCDC70 706 100% .

CCDC71 1408 100% .

CCDC71L 712 18% .

CCDC72 211 100% .

CCDC73 3308 99% .

CCDC74A 1169 98% .

CCDC74B 1175 99% .

CCDC75 812 100% .

CCDC76 1490 100% .

CCDC77 1747 100% .

CCDC78 1373 93% .

CCDC79 2252 73% .

CCDC8 1621 100% 3-M Syndrome

CCDC8 1621 100% 3-M Syndrome, CCDC8-Related

CCDC80 2881 100% .

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Feb 2013

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CCDC81 2180 88% .

CCDC82 1663 100% .

CCDC83 1379 100% .

CCDC84 1043 90% .

CCDC85A 1686 94% .

CCDC85B 613 33% .

CCDC85C 1284 25% .

CCDC86 1099 100% .

CCDC87 2554 100% .

CCDC88A 6818 100% .

CCDC88B 4539 72% .

CCDC88C 6207 95% .

CCDC89 1129 100% .

CCDC9 1640 88% .

CCDC90A 1116 64% .

CCDC90B 801 100% .

CCDC91 1374 100% .

CCDC92 1012 100% .

CCDC93 1992 98% .

CCDC94 1004 90% .

CCDC96 1672 94% .

CCDC97 1052 96% .

CCDC99 1862 100% .

CCHCR1 2977 100% .

CCIN 1771 100% .

CCK 356 100% .

CCKAR 1307 100% .

CCKBR 1364 100% .

CCL1 303 100% .

CCL11 306 100% .

CCL13 309 100% .

CCL14 346 85% .

CCL15 358 100% .

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CCL16 375 100% .

CCL17 297 100% .

CCL18 282 100% .

CCL19 313 99% .

CCL2 312 100% .

CCL20 426 100% .

CCL21 421 100% .

CCL22 294 100% .

CCL23 600 100% .

CCL24 372 100% .

CCL25 597 88% .

CCL26 297 97% .

CCL27 351 100% .

CCL28 396 100% .

CCL3 291 100% .

CCL3L1 588 42% .

CCL3L3 588 42% .

CCL4 291 100% .

CCL4L1 582 59% .

CCL4L2 582 59% .

CCL5 288 99% .

CCL7 312 100% .

CCL8 312 100% .

CCM2 1472 98% Familial Cerebral Cavernous Malformation

CCM2 1472 98% Familial Cerebral Cavernous Malformation 2

CCNA1 1820 100% .

CCNA2 1331 99% .

CCNB1 1338 100% .

CCNB1IP1 846 100% .

CCNB2 1233 98% .

CCNB3 4232 100% .

CCNC 974 100% .

CCND1 908 100% .

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CCND2 890 100% .

CCND3 1260 93% .

CCNDBP1 1127 93% .

CCNE1 1277 94% .

CCNE2 1259 100% .

CCNF 2429 99% .

CCNG1 908 100% .

CCNG2 1063 100% .

CCNH 1135 100% .

CCNI 1158 100% .

CCNI2 1134 62% .

CCNJ 1500 100% .

CCNJL 1332 88% .

CCNK 1783 82% .

CCNL1 1625 89% .

CCNL2 1633 99% .

CCNO 1065 73% .

CCNT1 2217 100% .

CCNT2 5075 100% .

CCNY 1145 97% .

CCNYL1 1344 86% .

CCP110 3198 100% .

CCPG1 6652 100% .

CCR1 1072 100% .

CCR10 1097 89% .

CCR2 2362 100% .

CCR3 2278 95% .

CCR4 1087 100% .

CCR5 1063 100% .

CCR6 1133 100% .

CCR7 1149 100% .

CCR8 1072 100% .

CCR9 2211 100% .

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CCRL1 1057 100% .

CCRL2 2130 100% .

CCRN4L 1308 85% .

CCS 857 95% .

CCT2 1742 100% .

CCT3 1694 98% .

CCT4 1676 100% .

CCT5 1670 100% Autosomal Recessive Sensory Neuropathy with Spastic Paraplegia

CCT6A 1652 92% .

CCT6B 1649 100% .

CCT7 1838 100% .

CCT8 1707 100% .

CCT8L2 1678 100% .

CCZ1 1509 82% .

CCZ1B 1509 76% .

CD101 3523 100% .

CD109 4630 98% .

CD14 1136 100% .

CD151 790 99% .

CD160 562 100% .

CD163 3667 100% .

CD163L1 4438 100% .

CD164 840 84% .

CD164L2 542 83% .

CD177 1350 94% .

CD180 1998 100% .

CD19 1830 91% Common Variable Immune Deficiency

CD1A 1008 100% .

CD1B 1026 100% .

CD1C 1026 100% .

CD1D 1032 95% .

CD1E 2028 100% .

CD2 1076 100% .

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CD200 913 98% .

CD200R1 1495 100% .

CD200R1L 910 100% .

CD207 1011 100% .

CD209 2508 100% .

CD22 2685 99% .

CD226 1035 100% .

CD24 247 100% .

CD244 1444 100% .

CD247 567 100% .

CD248 2278 93% .

CD27 807 100% .

CD274 897 100% .

CD276 1641 100% .

CD28 1040 100% .

CD2AP 1992 100% Focal Segmental Glomerulosclerosis

CD2AP 1992 100% Focal Segmental Glomerulosclerosis 3

CD2BP2 1050 100% .

CD300A 928 96% .

CD300C 691 100% .

CD300E 634 100% .

CD300LB 733 100% .

CD300LD 1293 100% .

CD300LF 901 100% .

CD300LG 1388 93% .

CD302 723 90% .

CD320 869 75% .

CD33 1136 99% .

CD34 1209 90% .

CD36 1467 100% Platelet Glycoprotein IV Deficiency

CD37 1007 100% .

CD38 935 100% .

CD3D 536 100% Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, CD3D-Related

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CD3E 656 100% Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, CD3E-Related

CD3EAP 1545 98% .

CD3G 573 91% Immunodeficiency due to Defect in CD3-Gamma

CD4 2327 100% .

CD40 903 100% Immunodeficiency with Hyper-IgM, Type 3

CD40LG 806 100% X-Linked Hyper IgM Syndrome

CD40LG 806 100% Choriodal Dystrophy, Central Areolar 2

CD44 2593 97% .

CD46 1393 100% Atypical Hemolytic-Uremic Syndrome

CD46 1393 100% CD46-Related Atypical Hemolytic-Uremic Syndrome

CD47 1033 93% .

CD48 1019 100% .

CD5 1528 96% .

CD52 194 100% .

CD53 688 100% .

CD55 1495 85% .

CD58 826 92% .

CD59 399 100% .

CD5L 1068 100% .

CD6 2059 80% .

CD63 833 99% .

CD68 1611 100% .

CD69 620 100% .

CD7 739 65% .

CD70 594 100% .

CD72 1112 95% .

CD74 994 94% .

CD79A 1005 88% .

CD79B 775 100% .

CD80 887 100% .

CD81 743 98% .

CD82 836 100% .

CD83 1004 100% .

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CD84 1279 100% .

CD86 1412 100% .

CD8A 732 77% .

CD8B 939 94% .

CD9 719 97% .

CD93 1967 99% .

CD96 1818 100% C Syndrome

CD97 2588 95% .

CD99 1196 45% .

CD99L2 912 92% .

CDA 457 100% .

CDADC1 1594 94% .

CDAN1 3796 91% Congenital Dyserythropoietic Anemia Type I

CDC123 1063 100% .

CDC14A 2615 100% .

CDC14B 1606 96% .

CDC16 1935 97% .

CDC20 1540 100% .

CDC20B 1730 99% .

CDC23 1858 100% .

CDC25A 1635 89% .

CDC25B 1939 89% .

CDC25C 1474 100% .

CDC26 266 100% .

CDC27 2704 100% .

CDC34 731 84% .

CDC37 1169 100% .

CDC37L1 1042 100% .

CDC40 1800 100% .

CDC42 690 100% .

CDC42BPA 5304 99% .

CDC42BPB 5284 92% .

CDC42BPG 4804 84% .

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CDC42EP1 1184 91% .

CDC42EP2 637 100% .

CDC42EP3 769 100% .

CDC42EP4 1075 100% .

CDC42EP5 451 29% .

CDC42SE1 252 100% .

CDC42SE2 267 100% .

CDC45 1873 95% .

CDC5L 2473 99% .

CDC6 1727 100% Meier-Gorlin Syndrome 5

CDC7 1769 100% .

CDC73 1664 100% Hyperparathyroidism-Jaw Tumor Syndrome

CDC73 1664 100% CDC73-Related Familial Isolated Hyperparathyroidism

CDC73 1664 100% CDC73-Related Parathyroid Carcinoma

CDC73 1664 100% CDC73-Related Disorders

CDCA2 3128 100% .

CDCA3 827 100% .

CDCA4 730 100% .

CDCA5 783 100% .

CDCA7 1393 98% .

CDCA7L 1550 100% .

CDCA8 883 100% .

CDCP1 2936 100% .

CDCP2 1366 100% .

CDH1 2713 98% Hereditary Diffuse Gastric Cancer

CDH1 2713 98% Choriodal Dystrophy, Central Areolar 2

CDH10 2411 100% .

CDH11 2435 100% .

CDH12 2429 100% .

CDH13 2396 99% .

CDH15 2501 84% .

CDH16 3396 99% .

CDH17 2567 100% .

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CDH18 2673 100% .

CDH19 2363 100% .

CDH2 2785 98% .

CDH20 2450 100% .

CDH22 2531 81% .

CDH23 12141 99% Usher Syndrome Type 1

CDH23 12141 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

CDH23 12141 99% Usher Syndrome Type 1D

CDH23 12141 99% DFNB12 Nonsyndromic Hearing Loss and Deafness

CDH24 2508 88% .

CDH26 2593 100% .

CDH3 2554 95% EEM Syndrome

CDH4 3046 90% .

CDH5 2399 99% .

CDH6 2417 100% .

CDH7 2402 100% .

CDH8 2444 100% .

CDH9 2414 100% .

CDHR1 2850 95% .

CDHR2 4057 99% .

CDHR3 2734 100% .

CDHR4 2443 21% .

CDHR5 3184 95% .

CDIPT 666 92% .

CDK1 1074 100% .

CDK10 1406 96% .

CDK11A 2578 66% .

CDK11B 2996 67% .

CDK12 5246 100% .

CDK13 5052 82% .

CDK14 1408 100% .

CDK15 1203 100% .

CDK16 2005 87% .

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CDK17 1794 98% .

CDK18 1812 85% .

CDK19 1561 100% .

CDK2 925 100% .

CDK20 1673 81% .

CDK2AP1 364 84% .

CDK2AP2 397 61% .

CDK3 946 100% .

CDK4 940 100% Cutaneous Malignant Melanoma

CDK4 940 100% CDK4-Related Cutaneous Malignant Melanoma

CDK4 940 100% Choriodal Dystrophy, Central Areolar 2

CDK5 927 100% .

CDK5R1 928 100% .

CDK5R2 1108 78% .

CDK5RAP1 2124 100% .

CDK5RAP2 5834 100% Primary Autosomal Recessive Microcephaly Type 3

CDK5RAP2 5834 100% Primary Autosomal Recessive Microcephaly

CDK5RAP3 1577 99% .

CDK6 1009 98% .

CDK7 1089 97% .

CDK8 1447 100% .

CDK9 1147 100% .

CDKAL1 1796 100% .

CDKL1 1113 100% .

CDKL2 1522 100% .

CDKL3 2168 100% .

CDKL4 980 100% .

CDKL5 3173 100% Epileptic Encephalopathy, Early Infantile, 2

CDKL5 3173 100% CDKL5-Related X-Linked Infantile Spasm Syndrome

CDKL5 3173 100% CDKL5-Related Angelman-like Syndrome

CDKN1A 503 100% .

CDKN1B 605 100% Multiple Endocrine Neoplasia Type 4

CDKN1C 1783 17% Beckwith-Wiedemann Syndrome

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CDKN1C 1783 17% Choriodal Dystrophy, Central Areolar 2

CDKN1C 1783 17% IMAGe Syndrome

CDKN2A 1598 97% Cutaneous Malignant Melanoma

CDKN2A 1598 97% CDKN2A-Related Cutaneous Malignant Melanoma

CDKN2A 1598 97% Choriodal Dystrophy, Central Areolar 2

CDKN2AIP 1755 98% .

CDKN2AIPNL 363 100% .

CDKN2B 747 100% .

CDKN2C 515 100% .

CDKN2D 509 90% .

CDKN3 758 98% .

CDNF 580 99% .

CDO1 623 100% .

CDON 4150 100% CDON-Related Holoprosencephaly

CDR1 793 100% .

CDR2 1385 100% .

CDR2L 1418 60% .

CDRT1 2307 100% .

CDRT15 579 100% .

CDRT15L2 854 100% .

CDRT4 464 100% .

CDS1 1438 95% .

CDS2 1390 96% .

CDSN 1598 88% .

CDT1 1681 91% Meier-Gorlin Syndrome 4

CDV3 918 73% .

CDX1 810 49% .

CDX2 954 76% .

CDX4 867 100% .

CDY1 6662 0% .

CDY1B 6662 0% .

CDY2A 3260 0% .

CDY2B 3260 0% .

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CDYL 2334 99% .

CDYL2 1549 98% .

CEACAM1 1910 95% .

CEACAM16 1302 94% .

CEACAM18 1217 100% .

CEACAM19 996 94% .

CEACAM20 1931 100% .

CEACAM21 1007 100% .

CEACAM3 787 98% .

CEACAM4 763 98% .

CEACAM5 2145 100% .

CEACAM6 1055 100% .

CEACAM7 814 100% .

CEACAM8 1070 100% .

CEBPA 1081 43% Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA

CEBPB 1042 49% .

CEBPD 814 62% .

CEBPE 854 100% .

CEBPG 457 100% .

CEBPZ 3229 100% .

CECR1 1606 100% .

CECR2 4403 100% .

CECR5 1344 92% .

CECR6 3482 54% .

CEL 2315 84% Maturity-Onset Diabetes of the Young Type 8, with Exocrine Dysfunction

CELA1 809 92% .

CELA2A 842 100% .

CELA2B 842 100% .

CELA3A 845 100% .

CELA3B 845 100% .

CELF1 2126 96% .

CELF2 2226 100% .

CELF3 1454 80% .

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CELF4 1877 91% .

CELF5 1937 97% .

CELF6 1648 55% .

CELSR1 9185 88% .

CELSR2 8908 99% .

CELSR3 10079 95% .

CEMP1 821 100% .

CEND1 454 98% .

CENPA 439 76% .

CENPB 1804 99% .

CENPBD1 568 57% .

CENPC1 2908 99% .

CENPE 8302 99% .

CENPF 9421 100% .

CENPH 780 94% .

CENPI 2351 100% .

CENPJ 4081 100% Primary Autosomal Recessive Microcephaly

CENPJ 4081 100% Primary Autosomal Recessive Microcephaly Type 6

CENPJ 4081 100% Seckel Syndrome 4

CENPK 846 100% .

CENPL 1193 88% .

CENPM 752 100% .

CENPN 1277 100% .

CENPO 927 100% .

CENPP 899 100% .

CENPQ 839 100% .

CENPT 1738 97% .

CENPV 839 69% .

CENPW 279 100% .

CEP104 2862 100% .

CEP112 3138 100% .

CEP120 3202 100% .

CEP128 3377 100% .

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CEP135 3519 100% .

CEP152 5237 100% Primary Autosomal Recessive Microcephaly Type 4

CEP152 5237 100% Primary Autosomal Recessive Microcephaly

CEP152 5237 100% Seckel Syndrome 5

CEP164 4507 98% .

CEP170 5282 100% .

CEP19 512 100% .

CEP192 7790 78% .

CEP250 7457 97% .

CEP290 7652 100% Bardet-Biedl Syndrome

CEP290 7652 100% Leber Congenital Amaurosis

CEP290 7652 100% Meckel Syndrome

CEP290 7652 100% Joubert Syndrome and Related Disorders

CEP290 7652 100% Senior-Loken Syndrome

CEP290 7652 100% CEP290-Related Joubert Syndrome

CEP290 7652 100% CEP290-Related Leber Congenital Amaurosis

CEP290 7652 100% Senior-Loken Syndrome 6

CEP290 7652 100% CEP290-Related Meckel Syndrome

CEP290 7652 100% CEP290-Related Bardet-Biedl Syndrome

CEP350 9502 100% .

CEP41 1166 100% Joubert Syndrome and Related Disorders

CEP41 1166 100% CEP41-Related Joubert Syndrome

CEP44 1331 91% .

CEP55 1427 100% .

CEP57 1547 100% .

CEP57L1 1423 100% .

CEP63 2271 95% .

CEP68 2294 100% .

CEP70 1858 100% .

CEP72 1992 96% .

CEP76 2028 100% .

CEP78 2233 100% .

CEP85 2341 99% .

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CEP85L 2848 97% .

CEP89 2428 99% .

CEP95 2546 99% .

CEP97 2642 100% .

CEPT1 1283 100% .

CER1 812 100% .

CERCAM 1836 87% .

CERK 1666 88% .

CERKL 1733 100% Retinitis Pigmentosa

CERKL 1733 100% CERKL-Related Retinitis Pigmentosa

CERS1 1203 62% .

CERS2 1183 100% .

CERS3 1192 100% .

CERS4 1225 99% .

CERS5 1219 98% .

CERS6 1195 100% .

CES1 2063 83% .

CES2 2062 100% .

CES3 1936 100% .

CES4A 2223 84% .

CES5A 1948 91% .

CETN1 523 99% .

CETN2 539 99% .

CETN3 524 100% .

CETP 1546 100% CETP-Related Hyperalphalipoproteinemia

CFB 2367 100% Age-Related Macular Degeneration

CFB 2367 100% Atypical Hemolytic-Uremic Syndrome

CFB 2367 100% CFB-Related Atypical Hemolytic-Uremic Syndrome

CFC1 1392 17% Heterotaxy Syndrome

CFC1 1392 17% CFC1-Related Visceral Heterotaxy

CFC1 1392 17% CFC1-Related Conotruncal Heart Malformations

CFC1B 1392 17% .

CFD 782 42% .

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CFDP1 928 100% .

CFH 3802 100% Age-Related Macular Degeneration

CFH 3802 100% Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II

CFH 3802 100% Atypical Hemolytic-Uremic Syndrome

CFH 3802 100% CFH-Related Atypical Hemolytic-Uremic Syndrome

CFH 3802 100% Age-Related Macular Degeneration 4

CFH 3802 100% CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II

CFH 3802 100% Choriodal Dystrophy, Central Areolar 2

CFH 3802 100% Basal Laminar Drusen

CFHR1 1017 90% Atypical Hemolytic-Uremic Syndrome

CFHR1 1017 90% CFHR3 and CFHR1-Related Atypical Hemolytic-Uremic Syndrome

CFHR2 833 94% .


CFHR3 1017 91% CFHR3 and CFHR1-Related Atypical Hemolytic-Uremic Syndrome


CFHR5 1750 100% Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II

CFHR5 1750 100% CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II

CFI 1804 100% Atypical Hemolytic-Uremic Syndrome

CFI 1804 100% CFI-Related Atypical Hemolytic-Uremic Syndrome

CFL1 517 99% .

CFL2 836 100% Nemaline Myopathy

CFL2 836 100% CFL2-Related Nemaline Myopathy

CFLAR 1739 100% .

CFP 1446 68% Properdin Deficiency, X-Linked

CFP 1446 68% Choriodal Dystrophy, Central Areolar 2

CFTR 4551 100% CFTR-Related Disorders

CFTR 4551 100% Hereditary Pancreatitis

CFTR 4551 100% CFTR-Related Hereditary Pancreatitis

CFTR 4551 100% Choriodal Dystrophy, Central Areolar 2

CGA 363 100% .

CGB 510 58% .

CGB1 480 99% .

CGB2 504 83% .

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CGB5 510 100% .

CGB7 510 98% .

CGB8 510 98% .

CGGBP1 508 100% .

CGN 3692 99% .

CGNL1 3981 100% .

CGREF1 1917 93% .

CGRRF1 1023 100% .

CH25H 823 93% .

CHAC1 1619 100% .

CHAC2 567 100% .

CHAD 1092 100% .

CHADL 2313 30% .

CHAF1A 2931 98% .

CHAF1B 1732 100% .

CHAMP1 2443 100% .

CHAT 2456 88% Congenital Myasthenic Syndromes

CHAT 2456 88% CHAT-Related Congenital Myasthenic Syndrome

CHAT 2456 88% Choriodal Dystrophy, Central Areolar 2

CHCHD1 369 100% .

CHCHD10 445 68% .

CHCHD2 472 100% .

CHCHD3 716 90% .

CHCHD4 506 96% .

CHCHD5 349 100% .

CHCHD6 740 84% .

CHCHD7 677 100% .

CHCHD8 268 100% .

CHD1 5273 100% .

CHD1L 3174 96% .

CHD2 5776 100% .

CHD3 6444 92% .

CHD4 5895 100% .

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CHD5 6029 97% .

CHD6 8292 100% .

CHD7 9142 100% CHARGE Syndrome

CHD7 9142 100% Kallmann Syndrome

CHD7 9142 100% Kallmann Syndrome 5

CHD8 7904 96% .

CHD9 8798 100% .

CHDH 1813 81% .

CHEK1 1479 100% .

CHEK2 1821 93% Prostate Cancer

CHEK2 1821 93% CHEK2-Related Susceptibility to Breast Cancer

CHEK2 1821 93% Li-Fraumeni Syndrome, CHEK2-Related

CHEK2 1821 93% Choriodal Dystrophy, Central Areolar 2

CHERP 2819 73% .

CHFR 2504 84% .

CHGA 1406 76% .

CHGB 2054 97% .

CHI3L1 1192 99% .

CHI3L2 1419 100% .

CHIA 1645 100% .

CHIC1 699 95% .

CHIC2 522 97% .

CHID1 1309 86% .

CHIT1 1474 100% Chitotriosidase Deficiency

CHKA 1422 89% .

CHKB 1232 92% Congenital Muscular Dystrophy

CHKB 1232 92% CHKB-Related Muscle Diseases

CHKB 1232 92% Congenital Muscular Dystrophy, Megaconial Type

CHL1 3779 100% .

CHM 2045 98% Choroideremia

CHM 2045 98% Choriodal Dystrophy, Central Areolar 2

CHML 1975 100% .

CHMP1A 949 97% .

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CHMP1B 604 100% .

CHMP2A 689 100% .

CHMP2B 704 100% CHMP2B-Related Frontotemporal Dementia

CHMP3 1187 100% .

CHMP4A 822 100% .

CHMP4B 695 99% .

CHMP4C 722 96% .

CHMP5 747 100% .

CHMP6 638 66% .

CHMP7 1402 83% .

CHN1 1514 99% Duane Syndrome

CHN1 1514 99% Duane Retraction Syndrome 2

CHN2 1877 100% .

CHODL 1249 93% .

CHORDC1 1043 100% .

CHP 616 91% .

CHP2 619 99% .

CHPF 2922 88% .

CHPF2 2335 100% .

CHPT1 1292 94% .

CHRAC1 408 96% .

CHRD 2960 92% .

CHRDL1 1743 100% .

CHRDL2 1404 90% .

CHRFAM7A 1443 58% .

CHRM1 1387 100% .

CHRM2 1405 100% .

CHRM3 1777 100% .

CHRM4 1444 100% .

CHRM5 1603 100% .

CHRNA1 1489 100% Congenital Myasthenic Syndromes

CHRNA1 1489 100% CHRNA1-Related Congenital Myasthenic Syndrome

CHRNA1 1489 100% CHRNA1-Related Multiple Pterygium Syndrome, Lethal Type

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CHRNA1 1489 100% Choriodal Dystrophy, Central Areolar 2

CHRNA10 1373 85% .

CHRNA2 1614 97% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CHRNA2 1614 97% CHRNA2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CHRNA3 1708 95% .

CHRNA4 1908 84% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CHRNA4 1908 84% CHRNA4-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CHRNA4 1908 84% Choriodal Dystrophy, Central Areolar 2

CHRNA5 1431 92% .

CHRNA6 1509 100% .

CHRNA7 1782 72% .

CHRNA9 1460 100% .

CHRNB1 1550 99% Congenital Myasthenic Syndromes

CHRNB1 1550 99% CHRNB1-Related Congenital Myasthenic Syndrome

CHRNB1 1550 99% Choriodal Dystrophy, Central Areolar 2

CHRNB2 1533 84% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CHRNB2 1533 84% CHRNB2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CHRNB2 1533 84% Choriodal Dystrophy, Central Areolar 2

CHRNB3 1401 100% .

CHRNB4 1521 99% .

CHRND 1602 100% Congenital Myasthenic Syndromes

CHRND 1602 100% CHRND-Related Congenital Myasthenic Syndrome

CHRND 1602 100% CHRND-Related Multiple Pterygium Syndrome, Lethal Type

CHRND 1602 100% Choriodal Dystrophy, Central Areolar 2

CHRNE 1530 97% Congenital Myasthenic Syndromes

CHRNE 1530 97% CHRNE-Related Congenital Myasthenic Syndrome

CHRNE 1530 97% Choriodal Dystrophy, Central Areolar 2

CHRNG 1602 100% CHRNG-Related Disorders

CHST1 1240 100% .

CHST10 1091 100% .

CHST11 1193 100% .

CHST12 1249 100% .

CHST13 1038 81% .

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CHST14 1135 84% Ehlers-Danlos Syndrome, Musculocontractural Type

CHST15 2223 94% .

CHST2 1597 77% .

CHST3 1448 68% CHST3-Related Skeletal Dysplasia

CHST3 1448 68% Spondyloepiphyseal Dysplasia, Omani Type

CHST3 1448 68% Humerospinal Dysostosis

CHST3 1448 68% Larsen Syndrome, Autosomal Recessive

CHST4 1165 100% .

CHST5 1240 96% .

CHST6 1192 97% Macular Corneal Dystrophy 1

CHST7 1465 50% .

CHST8 1287 100% .

CHST9 2448 100% .

CHSY1 2421 93% .

CHSY3 2661 84% .

CHTF18 3016 88% .

CHTF8 378 100% .

CHTOP 1165 100% .

CHUK 2322 99% .

CHURC1 533 100% .

CHURC1-FNTB 1615 100% .

CIAO1 1048 94% .

CIAPIN1 971 100% .

CIB1 604 83% .

CIB2 588 100% .

CIB3 588 100% .

CIB4 586 89% .

CIC 4907 95% .

CIDEA 680 100% .

CIDEB 680 95% .

CIDEC 896 80% .

CIITA 3469 100% Bare Lymphocyte Syndrome, Type II, Complementation Group A

CILP 3587 100% .

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CILP2 3503 91% .

CINP 922 95% .

CIR1 1393 98% .

CIRBP 543 100% .

CIRH1A 2125 100% North American Indian Childhood Cirrhosis

CISD1 339 100% .

CISD2 420 100% Wolfram Syndrome 2

CISD3 400 0% .

CISH 864 97% .

CIT 6268 99% .

CITED1 801 91% .

CITED2 817 100% .

CITED4 559 11% .

CIZ1 4281 89% .

CKAP2 2171 100% .

CKAP2L 2274 100% .

CKAP4 1817 74% .

CKAP5 6271 100% .

CKB 1174 86% .

CKLF 488 100% .

CKLF-CMTM1 798 100% .

CKM 1174 99% .

CKMT1A 1290 38% .

CKMT1B 1290 45% .

CKMT2 1296 100% .

CKS1B 252 100% .

CKS2 252 100% .

CLASP1 5074 99% .

CLASP2 4757 99% .

CLASRP 2105 78% .

CLC 445 100% .

CLCA1 2801 100% .

CLCA2 2888 100% .

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CLCA4 2816 100% .

CLCC1 1922 100% .

CLCF1 861 98% Cold-Induced Sweating Syndrome including Crisponi Syndrome

CLCF1 861 98% CLCF1-Related Cold-Induced Sweating Syndrome including Crisponi Syndrome

CLCN1 3059 93% Myotonia Congenita, Autosomal Dominant

CLCN1 3059 93% Myotonia Congenita, Autosomal Recessive

CLCN1 3059 93% Myotonia Congenita

CLCN1 3059 93% Choriodal Dystrophy, Central Areolar 2

CLCN2 2908 100% Juvenile Myoclonic Epilepsy

CLCN2 2908 100% CLCN2-Related Juvenile Myoclonic Epilepsy

CLCN3 2816 100% .

CLCN4 2327 100% .

CLCN5 2659 97% Dent Disease

CLCN5 2659 97% Dent Disease 1

CLCN5 2659 97% Choriodal Dystrophy, Central Areolar 2

CLCN6 3171 99% .

CLCN7 2518 75% CLCN7-Related Osteopetrosis

CLCNKA 2228 96% Bartter Syndrome Type 4B

CLCNKB 2566 99% Bartter Syndrome Type 3

CLCNKB 2566 99% Bartter Syndrome Type 4B

CLCNKB 2566 99% Choriodal Dystrophy, Central Areolar 2

CLDN1 652 100% Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis

CLDN10 1143 100% .

CLDN11 805 74% .

CLDN12 739 100% .

CLDN14 724 95% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

CLDN14 724 95% DFNB29 Nonsyndromic Hearing Loss and Deafness

CLDN15 707 96% .

CLDN16 938 100% Primary Hypomagnesemia

CLDN17 679 100% .

CLDN18 1030 93% .

CLDN19 1357 42% Hypomagnesemia, Renal, with Ocular Involvement

CLDN2 697 100% .

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Feb 2013

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CLDN20 664 100% .

CLDN22 667 100% .

CLDN23 883 70% .

CLDN24 667 100% .

CLDN25 694 100% .

CLDN3 667 100% .

CLDN4 634 100% .

CLDN5 916 75% .

CLDN6 667 100% .

CLDN7 819 100% .

CLDN8 682 100% .

CLDN9 658 100% .

CLDND1 1169 100% .

CLDND2 520 99% .

CLEC10A 1173 100% .

CLEC11A 988 73% .

CLEC12A 917 100% .

CLEC12B 1013 100% .

CLEC14A 1477 85% .

CLEC16A 3796 99% .

CLEC17A 949 100% .

CLEC18A 1389 39% .

CLEC18B 1420 96% .

CLEC18C 1389 41% .

CLEC1A 867 100% .

CLEC1B 714 100% .

CLEC2A 545 78% .

CLEC2B 466 100% .

CLEC2D 801 100% .

CLEC2L 665 53% .

CLEC3A 606 100% .

CLEC3B 621 92% .

CLEC4A 738 100% .

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CLEC4C 666 100% .

CLEC4D 672 100% .

CLEC4E 684 100% .

CLEC4F 1798 99% .

CLEC4G 977 85% .

CLEC4M 5657 100% .

CLEC5A 591 91% .

CLEC6A 654 100% .

CLEC7A 941 99% .

CLEC9A 750 100% .

CLECL1 704 100% .

CLGN 1889 100% .

CLIC1 750 100% .

CLIC2 768 100% .

CLIC3 735 63% .

CLIC4 786 98% .

CLIC5 1324 98% .

CLIC6 2085 41% .

CLINT1 2298 100% .

CLIP1 4380 100% .

CLIP2 3205 93% .

CLIP3 1696 90% .

CLIP4 2178 100% .

CLK1 1633 100% .

CLK2 1545 100% .

CLK3 1969 77% .

CLK4 1494 100% .

CLLU1 370 100% .

CLLU1OS 318 100% .

CLMN 3061 100% .

CLMP 1150 100% .

CLN3 1377 99% Neuronal Ceroid-Lipofuscinosis, Juvenile

CLN3 1377 99% Neuronal Ceroid-Lipofuscinoses

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CLN3 1377 99% CLN3-Related Neuronal Ceroid-Lipofuscinosis


CLN5 1240 94% Neuronal Ceroid-Lipofuscinosis, Finnish Variant





CLN8 869 100% Northern Epilepsy


CLNK 1359 100% .

CLNS1A 738 96% .

CLOCK 2621 100% .

CLP1 1896 100% .

CLPB 2192 100% .

CLPP 858 76% .

CLPS 351 100% .

CLPTM1 2066 96% .

CLPTM1L 1685 95% .

CLPX 1958 96% .

CLRN1 1078 96% Retinitis Pigmentosa, Autosomal Recessive

CLRN1 1078 96% Usher Syndrome Type 3

CLRN1 1078 96% Retinitis Pigmentosa

CLRN1 1078 96% Usher Syndrome Type 3A

CLRN1 1078 96% CLRN1-Related Retinitis Pigmentosa

CLRN2 711 100% .

CLRN3 693 100% .

CLSPN 4120 100% .

CLSTN1 3022 97% .

CLSTN2 2936 96% .

CLSTN3 2943 93% .

CLTA 951 94% .

CLTB 714 100% .

CLTC 5156 100% .

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CLTCL1 5051 99% .

CLU 1411 100% .

CLUAP1 1378 99% .

CLUL1 1433 100% .

CLVS1 1085 100% .

CLVS2 1004 100% .

CLYBL 1055 94% .

CMA1 764 100% .

CMAS 1337 91% .

CMBL 758 100% .

CMC1 337 93% .

CMIP 2428 97% .

CMKLR1 2253 100% .

CMPK1 711 83% .

CMPK2 1370 55% .

CMTM1 1924 100% .

CMTM2 763 100% .

CMTM3 569 75% .

CMTM4 898 78% .

CMTM5 491 100% .

CMTM6 568 82% .

CMTM7 548 70% .

CMTM8 538 85% .

CMYA5 12262 100% .

CNBD1 1355 99% .

CNBP 1102 100% Myotonic Dystrophy Type 2

CNBP 1102 100% Choriodal Dystrophy, Central Areolar 2

CNDP1 1572 100% .

CNDP2 1472 100% .

CNFN 351 87% .

CNGA1 2441 91% Retinitis Pigmentosa, Autosomal Recessive

CNGA1 2441 91% Retinitis Pigmentosa

CNGA1 2441 91% CNGA1-Related Retinitis Pigmentosa

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CNGA2 2019 96% .

CNGA3 2113 100% Achromatopsia

CNGA3 2113 100% Achromatopsia 2

CNGA4 1752 100% .

CNGB1 3914 94% Retinitis Pigmentosa, Autosomal Recessive

CNGB1 3914 94% Retinitis Pigmentosa

CNGB1 3914 94% CNGB1-Related Retinitis Pigmentosa

CNGB3 2502 100% Achromatopsia

CNGB3 2502 100% Achromatopsia 3

CNGB3 2502 100% CNGB3-Related Stargardt Disease 1

CNGB3 2502 100% Stargardt Disease, Autosomal Recessive

CNIH 455 81% .

CNIH2 507 93% .

CNIH3 507 78% .

CNIH4 440 98% .

CNKSR1 2226 96% .

CNKSR2 3202 100% .

CNKSR3 1720 100% .

CNN1 922 100% .

CNN2 958 93% .

CNN3 1018 100% .

CNNM1 2900 80% .

CNNM2 2702 98% Hypomagnesemia 6, Renal

CNNM3 2156 61% .

CNNM4 2356 94% Jalili Syndrome

CNO 658 50% .

CNOT1 8068 99% .

CNOT10 2311 99% .

CNOT2 1683 100% .

CNOT3 2330 98% .

CNOT4 2429 100% .

CNOT6 1718 100% .

CNOT6L 1716 100% .

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CNOT7 1009 100% .

CNOT8 903 100% .

CNP 1282 99% .

CNPPD1 1265 95% .

CNPY1 291 100% .

CNPY2 791 100% .

CNPY3 861 95% .

CNPY4 821 100% .

CNR1 4269 100% .

CNR2 1087 100% .

CNRIP1 568 70% .

CNST 3151 100% .

CNTD1 1021 100% .

CNTD2 944 59% .

CNTF 611 100% .

CNTFR 1151 85% .

CNTLN 4552 97% .

CNTN1 3149 100% .

CNTN2 3211 100% .

CNTN3 3175 100% .

CNTN4 3435 100% .

CNTN5 3509 99% .

CNTN6 3175 100% .

CNTNAP1 4251 99% .

CNTNAP2 4092 98% Pitt-Hopkins-Like Syndrome 1

CNTNAP2 4092 98% Cortical Dysplasia-Focal Epilepsy Syndrome

CNTNAP3 3963 84% .

CNTNAP4 4036 100% .

CNTNAP5 4017 100% .

CNTRL 7146 100% .

CNTROB 3057 100% .

COA5 237 81% .

COASY 2756 100% .

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COBL 3838 99% .

COBLL1 3557 99% .

COBRA1 1795 81% .

COCH 1697 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

COCH 1697 100% DFNA 9 Nonsyndromic Hearing Loss and Deafness

COG1 2999 97% Congenital Disorders of Glycosylation

COG1 2999 97% COG1-CDG (CDG-IIg)

COG2 2436 100% .

COG3 2579 99% .


COG4 2446 100% COG4-CDG (CDG-IIj)


COG5 2763 99% COG5-CDG (CDG-IIi)


COG6 2076 96% COG6-CDG (CDG-IIL)


COG7 2381 100% COG7-CDG (CDG-IIe)


COG8 1859 96% COG8-CDG (CDG-IIh)

COIL 1759 100% .

COL10A1 2051 100% Metaphyseal Chondrodysplasia, Schmid Type

COL10A1 2051 100% Choriodal Dystrophy, Central Areolar 2

COL11A1 5846 100% Stickler Syndrome

COL11A1 5846 100% Fibrochondrogenesis 1

COL11A1 5846 100% Marshall Syndrome

COL11A1 5846 100% COL11A1-Related Stickler Syndrome



COL11A2 5821 95% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant


COL11A2 5821 95% Otospondylomegaepiphyseal Dysplasia

COL11A2 5821 95% Weissenbacher-Zweymuller Syndrome

COL11A2 5821 95% DFNA13 Nonsyndromic Hearing Loss and Deafness

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COL11A2 5821 95% Fibrochondrogenesis 2


COL12A1 9452 99% .

COL13A1 2314 98% .

COL14A1 5579 100% .

COL15A1 4335 100% .

COL16A1 5095 94% .

COL17A1 4714 99% COL17A1-Related Junctional Epidermolysis Bullosa

COL17A1 4714 99% Junctional Epidermolysis Bullosa


COL18A1 5538 72% Knobloch Syndrome Type I

COL19A1 3629 100% .

COL1A1 4599 96% Osteogenesis Imperfecta Type I

COL1A1 4599 96% Osteogenesis Imperfecta Type IIA

COL1A1 4599 96% Osteogenesis Imperfecta Type III

COL1A1 4599 96% Osteogenesis Imperfecta Type IV

COL1A1 4599 96% Ehlers-Danlos Syndrome, Arthrochalasia Type

COL1A1 4599 96% Caffey Disease

COL1A1 4599 96% COL1A1/2-Related Osteogenesis Imperfecta

COL1A1 4599 96% Ehlers-Danlos Syndrome Type VIIA

COL1A1 4599 96% Ehlers-Danlos Syndrome, Classic Type, COL1A1-Related


COL1A2 4309 95% Osteogenesis Imperfecta Type I

COL1A2 4309 95% Osteogenesis Imperfecta Type IIA

COL1A2 4309 95% Osteogenesis Imperfecta Type III

COL1A2 4309 95% Osteogenesis Imperfecta Type IV

COL1A2 4309 95% Ehlers-Danlos Syndrome, Arthrochalasia Type

COL1A2 4309 95% COL1A1/2-Related Osteogenesis Imperfecta

COL1A2 4309 95% Ehlers-Danlos Syndrome Type VIIB


COL20A1 3991 93% .

COL21A1 2990 100% .

COL22A1 5137 93% .

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COL23A1 1739 68% .

COL24A1 5385 100% .

COL25A1 2335 100% .

COL27A1 5827 91% .

COL28A1 3514 100% .


COL2A1 4680 91% Spondyloepiphyseal Dysplasia Congenita

COL2A1 4680 91% Achondrogenesis Type 2

COL2A1 4680 91% Spondyloepimetaphyseal Dysplasia, Strudwick Type

COL2A1 4680 91% Kniest Dysplasia

COL2A1 4680 91% Type II Collagenopathies

COL2A1 4680 91% Spondyloepiphyseal Dysplasia

COL2A1 4680 91% COL2A1-Associated Stickler Syndrome


COL2A1 4680 91% Avascular Necrosis of Femoral Head, Primary

COL2A1 4680 91% Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

COL2A1 4680 91% Spondyloperipheral Dysplasia

COL2A1 4680 91% Osteoarthritis with Mild Chondrodysplasia


COL3A1 4605 93% Ehlers-Danlos Syndrome Type IV


COL4A1 5218 98% COL4A1-Related Disorders

COL4A1 5218 98% Autosomal Dominant Type 1 Porencephaly

COL4A1 5218 98% Brain Small Vessel Disease with Hemorrhage

COL4A1 5218 98% Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps

COL4A2 5327 89% .

COL4A3 5221 97% COL4A3 Alport Syndrome and Thin Basement Membrane Nephropathy

COL4A3 5221 97% Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy)


COL4A3BP 2729 91% .

COL4A4 5261 100% COL4A4 Alport Syndrome and Thin Basement Membrane Nephropathy



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COL4A5 5600 97% COL4A5 Alport Syndrome



COL4A6 5271 99% .

COL5A1 5781 91% Ehlers-Danlos Syndrome, Classic Type



COL5A2 4716 98% Ehlers-Danlos Syndrome, Classic Type



COL5A3 5506 93% .

COL6A1 3227 85% Congenital Muscular Dystrophy

COL6A1 3227 85% Collagen Type VI-Related Disorders




COL6A2 3498 95% Myosclerosis, Autosomal Recessive





COL6A5 7737 31% .

COL6A6 6936 100% .

COL7A1 9307 98% Recessive Dystrophic Epidermolysis Bullosa, Generalized, Severe

COL7A1 9307 98% Dystrophic Epidermolysis Bullosa


COL8A1 2243 99% .

COL8A2 2120 74% .


COL9A1 2994 99% COL9A1-Related Multiple Epiphyseal Dysplasia

COL9A1 2994 99% Multiple Epiphyseal Dysplasia, Dominant



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COLEC10 858 100% .

COLEC11 1191 98% .

COLEC12 2269 99% .

COLQ 1516 96% Congenital Myasthenic Syndromes

COLQ 1516 96% COLQ-Related Congenital Myasthenic Syndrome

COLQ 1516 96% Choriodal Dystrophy, Central Areolar 2

COMMD1 585 100% .

COMMD10 637 100% .

COMMD2 620 100% .

COMMD3 620 77% .

COMMD3-BMI1 1447 90% .

COMMD4 632 99% .

COMMD5 679 100% .

COMMD6 317 100% .

COMMD7 697 87% .

COMMD8 572 88% .

COMMD9 621 91% .

COMP 2350 84% Pseudoachondroplasia

COMP 2350 84% COMP-Related Multiple Epiphyseal Dysplasia

COMP 2350 84% Multiple Epiphyseal Dysplasia, Dominant

COMP 2350 84% Choriodal Dystrophy, Central Areolar 2

COMT 1125 95% .

COMTD1 817 44% .

COPA 4004 100% .

COPB1 2946 100% .

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COPB2 2809 100% .

COPE 967 74% .

COPG 2721 98% .

COPG2 1259 100% .

COPS2 1520 100% .

COPS3 1454 100% .

COPS4 1261 100% .

COPS5 1037 100% .

COPS6 1024 93% .

COPS7A 856 100% .

COPS7B 819 99% .

COPS8 737 100% .

COPZ1 570 96% .

COPZ2 665 84% .

COQ10A 806 95% .

COQ10B 737 100% .

COQ2 1294 91% Coenzyme Q10 Deficiency

COQ2 1294 91% COQ2-Related Coenzyme Q10 Deficiency

COQ3 1138 100% .

COQ4 826 99% .

COQ5 1012 100% .

COQ6 1455 91% .

COQ7 861 100% .

COQ9 993 92% Coenzyme Q10 Deficiency

COQ9 993 92% COQ9-Related Coenzyme Q10 Deficiency

CORIN 3217 100% .

CORO1A 1426 92% .

CORO1B 1510 93% .

CORO1C 1465 100% .

CORO2A 1622 98% .

CORO2B 1491 98% .

CORO6 1459 90% .

CORO7 2965 91% .

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CORO7-PAM16 3271 91% .

CORT 326 100% .

COTL1 445 67% .

COX10 1360 100% Leigh Syndrome (nuclear DNA mutation)

COX10 1360 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)

COX11 979 87% .

COX15 1339 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)

COX16 337 100% .

COX17 200 100% .

COX18 1026 78% .

COX19 285 100% .

COX4I1 526 100% .

COX4I2 532 100% Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis

COX4NB 817 98% .

COX5A 469 78% .

COX5B 406 74% .

COX6A1 342 100% .

COX6A2 306 28% .

COX6B1 273 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)

COX6B2 279 77% .

COX6C 236 100% .

COX7A1 256 90% .

COX7A2 364 100% .

COX7A2L 357 100% .

COX7B 255 100% .

COX7B2 250 100% .

COX7C 200 100% .

COX8A 218 82% .

COX8C 227 99% .

CP 3274 100% Aceruloplasminemia

CP 3274 100% Choriodal Dystrophy, Central Areolar 2

CPA1 1300 100% .

CPA2 1304 100% .

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CPA3 1298 100% .

CPA4 1310 100% .

CPA5 1547 92% .

CPA6 1358 100% .

CPAMD8 5967 86% .

CPB1 1298 100% .

CPB2 1694 100% .

CPD 4227 88% .

CPE 1467 91% .

CPEB1 2051 93% .

CPEB2 3457 58% .

CPEB3 2496 80% .

CPEB4 2230 100% .

CPLX1 417 100% .

CPLX2 417 94% .

CPLX3 489 100% .

CPLX4 495 100% .

CPM 1364 100% .

CPN1 1413 100% .

CPN2 1642 100% .

CPNE1 4718 100% .

CPNE2 1707 92% .

CPNE3 1674 100% .

CPNE4 1734 100% .

CPNE5 1866 85% .

CPNE6 1734 100% .

CPNE7 1970 72% .

CPNE8 1775 95% .

CPNE9 1742 99% .

CPO 1161 100% .

CPOX 1393 86% Hereditary Coproporphyria

CPOX 1393 86% Choriodal Dystrophy, Central Areolar 2

CPPED1 961 99% .

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CPS1 4922 100% Carbamoylphosphate Synthetase I Deficiency

CPS1 4922 100% Choriodal Dystrophy, Central Areolar 2

CPSF1 4480 87% .

CPSF2 2405 100% .

CPSF3 2127 100% .

CPSF3L 2076 86% .

CPSF4 1017 99% .

CPSF4L 564 86% .

CPSF6 1692 100% .

CPSF7 1871 96% .

CPT1A 2434 100% Carnitine Palmitoyltransferase IA Deficiency

CPT1A 2434 100% Choriodal Dystrophy, Central Areolar 2

CPT1B 2781 100% .

CPT1C 2596 97% .

CPT2 1997 93% Carnitine Palmitoyltransferase II Deficiency

CPT2 1997 93% Choriodal Dystrophy, Central Areolar 2

CPVL 1479 100% .

CPXCR1 910 100% .

CPXM1 2563 91% .

CPXM2 2327 89% .

CPZ 2382 94% .

CR1 7658 70% .

CR1L 1758 100% .

CR2 3355 98% .

CRABP1 430 95% .

CRABP2 433 100% .

CRADD 608 100% .

CRAMP1L 3890 80% .

CRAT 1937 96% .

CRB1 4269 100% Retinitis Pigmentosa, Autosomal Recessive

CRB1 4269 100% Leber Congenital Amaurosis

CRB1 4269 100% Retinitis Pigmentosa

CRB1 4269 100% CRB1-Related Leber Congenital Amaurosis

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CRB1 4269 100% CRB1-Related Retinitis Pigmentosa

CRB1 4269 100% Pigmented Paravenous Chorioretinal Atrophy

CRB1 4269 100% Choriodal Dystrophy, Central Areolar 2

CRB2 3910 79% .

CRB3 662 89% .

CRBN 1484 100% .

CRCP 561 100% .

CRCT1 304 88% .

CREB1 1058 100% .

CREB3 1152 100% .

CREB3L1 1608 99% .

CREB3L2 1703 89% .

CREB3L3 1426 100% .

CREB3L4 1402 100% .

CREB5 1796 100% .

CREBBP 7453 97% Rubinstein-Taybi Syndrome

CREBBP 7453 97% CREBBP-Related Rubinstein-Taybi Syndrome

CREBBP 7453 97% Choriodal Dystrophy, Central Areolar 2

CREBL2 379 100% .

CREBZF 1069 100% .

CREG1 679 48% .

CREG2 889 54% .

CRELD1 1720 98% Heterotaxy Syndrome

CRELD2 1253 82% .

CREM 1861 96% .

CRH 595 49% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CRH 595 49% CRH-Related Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

CRHBP 997 99% .

CRHR1 1516 92% .

CRHR2 1398 82% .

CRIM1 3179 99% .

CRIP1 250 82% .

CRIP2 659 66% .

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CRIP3 647 100% .

CRIPAK 1345 100% .

CRIPT 326 94% .

CRISP1 910 100% .

CRISP2 760 100% .

CRISP3 947 96% .

CRISPLD1 1559 100% .

CRISPLD2 1550 100% .

CRK 1609 100% .

CRKL 924 100% .

CRLF1 1305 84% Cold-Induced Sweating Syndrome including Crisponi Syndrome

CRLF1 1305 84% Crisponi Syndrome

CRLF1 1305 84% CRLF1-Related Cold-Induced Sweating Syndrome including Crisponi Syndrome

CRLF2 2202 50% .

CRLF3 1361 99% .

CRLS1 947 67% .

CRMP1 2160 80% .

CRNKL1 2607 97% .

CRNN 1496 100% .

CROCC 6202 64% .

CROT 2120 100% .

CRP 683 100% .

CRTAC1 2046 89% .

CRTAM 1222 100% .

CRTAP 1234 97% CRTAP-Related Osteogenesis Imperfecta

CRTC1 2013 85% .

CRTC2 2138 100% .

CRTC3 2133 96% .

CRX 912 100% Retinitis Pigmentosa, Autosomal Dominant

CRX 912 100% Leber Congenital Amaurosis

CRX 912 100% Retinitis Pigmentosa

CRX 912 100% CRX-Related Leber Congenital Amaurosis

CRX 912 100% Cone-Rod Dystrophy 2

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CRX 912 100% CRX-Related Retinitis Pigmentosa

CRX 912 100% Choriodal Dystrophy, Central Areolar 2

CRY1 1809 100% .

CRY2 1925 90% .

CRYAA 534 100% Cataract, Autosomal Recessive Congenital 1

CRYAB 540 96% Myofibrillar Myopathy

CRYAB 540 96% Alpha-B Crystallinopathy

CRYAB 540 96% Posterior Polar Cataract 2

CRYBA1 672 100% .

CRYBA2 610 100% .

CRYBA4 611 100% .

CRYBB1 779 100% Cataract, Congenital Nuclear, Autosomal Recessive 3

CRYBB2 638 100% .

CRYBB3 656 100% Cataract, Congenital Nuclear, Autosomal Recessive 2

CRYGA 537 100% .

CRYGB 540 100% .

CRYGC 537 100% .

CRYGD 537 98% Cataracts, Autosomal Dominant

CRYGN 565 97% .

CRYGS 549 100% .

CRYL1 992 96% .

CRYM 1151 74% .

CRYZ 1179 100% .

CRYZL1 1098 100% .

CS 1445 97% .

CSAD 1763 95% .

CSAG1 249 100% .

CSAG2 1420 0% .

CSAG3 1420 0% .

CSDA 1155 82% .

CSDC2 474 68% .

CSDE1 2611 100% .

CSE1L 3012 100% .

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CSF1 3755 99% .

CSF1R 3003 100% CSF1R-Related Hereditary Diffuse Leukoencephalopathy with Spheroids

CSF2 451 100% .

CSF2RA 3974 47% Pulmonary Surfactant Metabolism Dysfunction

CSF2RA 3974 47% CSF2RA-Related Pulmonary Surfactant Metabolism Dysfunction

CSF2RB 2746 94% .

CSF3 812 88% .

CSF3R 3873 99% .

CSGALNACT1 1627 100% .

CSGALNACT2 1657 100% .

CSH1 1543 88% .

CSH2 939 91% .

CSHL1 929 100% .

CSK 1401 97% .

CSMD1 10975 100% .

CSMD2 10740 98% .

CSMD3 11470 100% .

CSN1S1 664 99% .

CSN2 705 100% .

CSN3 561 100% .

CSNK1A1 1142 100% .

CSNK1A1L 1018 100% .

CSNK1D 1321 83% .

CSNK1E 1287 94% .

CSNK1G1 1313 100% .

CSNK1G2 1292 92% .

CSNK1G3 1420 100% .

CSNK2A1 1288 100% .

CSNK2A2 1097 99% .

CSNK2B 672 100% .

CSPG4 7009 92% .

CSPG5 2986 96% .

CSPP1 3782 100% .

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CSRNP1 1786 93% .

CSRNP2 1648 100% .

CSRNP3 1774 100% .

CSRP1 736 100% .

CSRP2 602 100% .

CSRP2BP 2389 100% .

CSRP3 605 100% Familial Hypertrophic Cardiomyopathy

CSRP3 605 100% Dilated Cardiomyopathy

CSRP3 605 100% CSRP3-Related Familial Hypertrophic Cardiomyopathy

CSRP3 605 100% CSRP3-Related Dilated Cardiomyopathy

CSRP3 605 100% Choriodal Dystrophy, Central Areolar 2

CST1 438 100% .

CST11 429 100% .

CST2 438 100% .

CST3 453 52% .

CST4 438 100% .

CST5 441 100% .

CST6 462 94% .

CST7 454 100% .

CST8 441 100% .

CST9 488 100% .

CST9L 456 100% .

CSTA 309 100% .

CSTB 309 77% Unverricht-Lundborg Disease

CSTB 309 77% Choriodal Dystrophy, Central Areolar 2

CSTF1 1316 100% .

CSTF2 1786 99% .

CSTF2T 1855 100% .

CSTF3 2630 100% .

CSTL1 450 100% .

CT45A1 586 22% .

CT45A2 586 2% .

CT45A3 586 18% .

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CT45A4 1172 1% .

CT45A5 586 59% .

CT45A6 586 6% .

CT47A1 8750 1% .

CT47A10 7875 0% .

CT47A11 7875 0% .

CT47A12 7875 0% .

CT47A2 7875 0% .

CT47A3 7875 0% .

CT47A4 7875 0% .

CT47A5 7875 0% .

CT47A6 8750 2% .

CT47A7 875 0% .

CT47A8 7875 0% .

CT47A9 7875 0% .

CT47B1 908 100% .

CT62 419 97% .

CTAG1A 1110 0% .

CTAG1B 1110 0% .

CTAG2 1794 97% .

CTAGE1 2242 100% .

CTAGE15P 2338 47% .

CTAGE4 4676 40% .

CTAGE5 2853 100% .

CTAGE6P 2338 49% .

CTAGE9 2338 100% .

CTBP1 1370 69% .

CTBP2 3056 96% .

CTBS 1186 91% .

CTC1 3746 98% CTC1-Related Dyskeratosis Congenita

CTCF 2362 100% .

CTCFL 2032 100% .

CTDNEP1 767 100% .

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CTDP1 3169 81% Congenital Cataracts, Facial Dysmorphism, and Neuropathy

CTDSP1 923 92% .

CTDSP2 848 99% .

CTDSPL 863 90% .

CTDSPL2 1449 100% .

CTF1 741 35% .

CTGF 1070 73% .

CTH 1266 100% Cystathioninuria

CTH 1266 100% Choriodal Dystrophy, Central Areolar 2

CTHRC1 748 79% .

CTIF 2344 98% .

CTLA4 797 100% .

CTNNA1 2789 100% .

CTNNA2 2786 100% .

CTNNA3 2756 100% .

CTNNAL1 2281 94% .

CTNNB1 2402 100% .

CTNNBIP1 258 67% .

CTNNBL1 1756 93% .

CTNND1 3339 100% .

CTNND2 3766 90% .

CTNS 1404 100% Cystinosis

CTNS 1404 100% Nephropathic Cystinosis

CTNS 1404 100% Choriodal Dystrophy, Central Areolar 2

CTPS 1844 100% .

CTPS2 1829 100% .

CTR9 3622 100% .

CTRB1 820 44% .

CTRB2 820 37% .

CTRC 839 100% Hereditary Pancreatitis

CTRC 839 100% CTRC-Related Hereditary Pancreatitis

CTRL 823 95% .

CTSA 1557 97% Galactosialidosis

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CTSA 1557 97% Choriodal Dystrophy, Central Areolar 2

CTSB 1056 100% .

CTSC 1551 90% Papillon-Lefevre Disease

CTSC 1551 90% Papillon-Lefevre Syndrome

CTSC 1551 90% Haim-Munk Syndrome

CTSD 1275 94% Neuronal Ceroid-Lipofuscinoses

CTSD 1275 94% CTSD-Related Neuronal Ceroid-Lipofuscinosis

CTSE 1482 100% .

CTSF 1507 83% .

CTSG 788 100% .

CTSH 1056 85% .

CTSK 1018 100% Pycnodysostosis

CTSK 1018 100% Choriodal Dystrophy, Central Areolar 2

CTSL1 1030 100% .

CTSL2 1033 100% .

CTSO 998 86% .

CTSS 1024 100% .

CTSW 1171 98% .

CTSZ 936 84% .

CTTN 2272 99% .

CTTNBP2 5084 100% .

CTTNBP2NL 1936 100% .

CTU1 1055 34% .

CTU2 1682 96% .

CTXN1 253 81% .

CTXN2 250 0% .

CTXN3 250 100% .

CUBN 11140 100% Megaloblastic Anemia

CUEDC1 1197 94% .

CUEDC2 896 100% .

CUL1 2415 100% .

CUL2 2545 98% .

CUL3 2371 99% Pseudohypoaldosteronism Type IIE

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CUL4A 2468 90% .

CUL4B 3399 100% Mental Retardation, X-Linked, with Short Stature, Small Testes, Muscle Wasting, and Tremor

CUL5 2419 100% .

CUL7 6141 97% 3-M Syndrome

CUL7 6141 97% 3-M Syndrome, CUL7-Related

CUL9 7714 100% .

CUTA 886 100% .

CUTC 858 93% .

CUX1 5692 92% .

CUX2 4549 91% .

CUZD1 1860 100% .

CWC15 713 100% .

CWC22 2803 100% .

CWC25 1318 99% .

CWC27 1475 100% .

CWF19L1 1673 100% .

CWF19L2 2757 100% .

CWH43 2164 98% .

CX3CL1 1206 100% .

CX3CR1 2253 100% .

CXADR 1933 98% .

CXCL1 340 100% .

CXCL10 313 100% .

CXCL11 301 100% .

CXCL12 656 91% .

CXCL13 346 100% .

CXCL14 352 71% .

CXCL16 842 99% .

CXCL17 376 100% .

CXCL2 340 99% .

CXCL3 340 100% .

CXCL5 361 100% .

CXCL6 361 100% .

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CXCL9 394 100% .

CXCR1 1057 100% .

CXCR2 1087 100% .

CXCR3 2520 93% .

CXCR4 2169 100% .

CXCR5 2199 100% .

CXCR6 1033 100% .

CXCR7 1093 100% .

CXorf1 340 100% .

CXorf21 910 100% .

CXorf22 2995 100% .

CXorf23 2093 100% .

CXorf26 726 95% .

CXorf27 358 100% .

CXorf30 1958 100% .

CXorf36 1377 97% .

CXorf38 984 98% .

CXorf40A 726 100% .

CXorf40B 485 100% .

CXorf41 669 100% .

CXorf48 1019 54% .

CXorf49 3130 0% .

CXorf49B 3130 0% .

CXorf51A 670 0% .

CXorf51B 670 0% .

CXorf56 819 100% .

CXorf57 2793 100% .

CXorf58 1189 100% .

CXorf59 1549 100% .

CXorf61 350 100% .

CXorf64 905 100% .

CXorf65 576 100% .

CXorf66 1098 100% .

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CXorf68 312 100% .

CXorf69 256 92% .

CXXC1 2167 100% .

CXXC11 1727 86% .

CXXC4 605 100% .

CXXC5 977 100% .

CYB561 776 96% .

CYB561D1 2209 85% .

CYB561D2 681 100% .

CYB5A 438 100% .

CYB5B 473 100% .

CYB5D1 703 100% .

CYB5D2 956 100% .

CYB5R1 954 100% .

CYB5R2 863 99% .

CYB5R3 1202 76% Methemoglobinemia Due to Deficiency of Methemoglobin Reductase

CYB5R4 1630 100% .

CYB5RL 972 100% .

CYBA 612 48% Chronic Granulomatous Disease (3292)

CYBA 612 48% Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Negative

CYBA 612 48% Chronic Granulomatous Disease

CYBA 612 48% Choriodal Dystrophy, Central Areolar 2

CYBASC3 1007 96% .

CYBB 1765 100% Chronic Granulomatous Disease (3292)

CYBB 1765 100% Chronic Granulomatous Disease, X-linked

CYBB 1765 100% Chronic Granulomatous Disease

CYBB 1765 100% Choriodal Dystrophy, Central Areolar 2

CYBRD1 1185 99% .

CYC1 1006 87% .

CYCS 326 100% Thrombocytopenia 4

CYFIP1 4802 93% .

CYFIP2 3882 100% .

CYGB 589 95% .

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CYHR1 1932 97% .

CYLC1 1976 100% .

CYLC2 1067 100% .

CYLD 3046 100% Familial Cylindromatosis

CYLD 3046 100% Brooke-Spiegler Syndrome

CYLD 3046 100% Multiple Familial Trichoepithelioma 1

CYP11A1 1806 100% .

CYP11B1 1548 100% Glucocorticoid-Remediable Aldosteronism

CYP11B1 1548 100% 11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

CYP11B1 1548 100% Choriodal Dystrophy, Central Areolar 2

CYP11B2 1548 100% Glucocorticoid-Remediable Aldosteronism

CYP11B2 1548 100% Familial Hypoaldosteronism Type 2

CYP11B2 1548 100% Corticosterone Methyloxidase Type I Deficiency

CYP11B2 1548 100% Corticosterone Methyloxidase Type II Deficiency


CYP17A1 1559 99% 17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

CYP19A1 1548 100% Aromatase Deficiency

CYP1A1 1563 100% .

CYP1A2 1575 100% .

CYP1B1 1640 93% CYP1B1-Related Primary Congenital Glaucoma

CYP1B1 1640 93% Peters Anomaly

CYP1B1 1640 93% CYP1B1-Related Primary Congenital Glaucoma (319426)

CYP1B1 1640 93% Primary Congenital Glaucoma


CYP20A1 1441 100% .

CYP21A2 3049 80% 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

CYP21A2 3049 80% Choriodal Dystrophy, Central Areolar 2

CYP24A1 1589 93% Hypercalcemia, Infantile

CYP26A1 1751 99% .

CYP26B1 1563 94% .

CYP26C1 1593 74% .

CYP27A1 1632 97% Cerebrotendinous Xanthomatosis

CYP27A1 1632 97% Choriodal Dystrophy, Central Areolar 2

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CYP27B1 1563 88% Vitamin D-Dependent Rickets, Type I


CYP27C1 1147 100% .

CYP2A13 1521 100% .

CYP2A6 1521 100% .

CYP2A7 1725 100% .

CYP2B6 1512 100% .

CYP2C18 1509 100% .

CYP2C19 1509 100% .

CYP2C8 1705 100% .

CYP2C9 1509 100% .

CYP2D6 1530 96% .

CYP2E1 1518 100% .

CYP2F1 1512 100% .

CYP2J2 1545 100% .

CYP2R1 1526 100% .

CYP2S1 1551 82% .

CYP2U1 1655 73% .

CYP2W1 1509 57% .

CYP39A1 1458 100% .

CYP3A4 1696 100% .

CYP3A43 1837 100% .

CYP3A5 1670 100% .

CYP3A7 1564 100% .

CYP46A1 1563 81% .

CYP4A11 1608 100% .

CYP4A22 1608 100% .

CYP4B1 1746 100% .

CYP4F11 1623 100% .

CYP4F12 1623 100% .

CYP4F2 1611 100% .

CYP4F22 1644 99% Autosomal Recessive Congenital Ichthyosis

CYP4F22 1644 99% CYP4F22-Related Autosomal Recessive Congenital Ichthyosis

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CYP4F3 1760 100% .

CYP4F8 1610 100% .

CYP4V2 1622 92% Bietti Crystalline Dystrophy

CYP4V2 1622 92% Corneal Dystrophy

CYP4X1 1578 100% .

CYP4Z1 1566 97% .

CYP51A1 1751 100% .

CYP7A1 1539 100% .

CYP7B1 1545 92% Spastic Paraplegia 5A

CYP7B1 1545 92% Bile Acid Synthesis Defect, Congenital, 3

CYP8B1 1510 100% .

CYR61 1166 99% .

CYS1 489 20% .

CYSLTR1 1018 100% .

CYSLTR2 1045 100% .

CYTH1 1449 98% .

CYTH2 1451 98% .

CYTH3 1252 93% .

CYTH4 1237 100% .

CYTIP 1112 100% .

CYTL1 427 85% .

CYYR1 481 100% .

D2HGDH 1602 87% D-2-Hydroxyglutaric Aciduria 1

D4S234E 574 100% .

DAAM1 3337 100% .

DAAM2 3433 99% .

DAB1 1720 100% .

DAB2 2365 100% .

DAB2IP 3894 93% .

DACH1 2171 89% Anophthalmia/Microphthalmia

DACH2 1900 95% .

DACT1 4408 93% .

DACT2 2341 77% .

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DACT3 1906 40% .

DAD1 350 100% .

DAG1 2696 100% .

DAGLA 3205 100% .

DAGLB 2079 100% .

DAK 1796 96% .

DALRD3 1941 85% .

DAND5 578 100% .

DAO 1084 100% .

DAOA 1185 100% .

DAP 325 84% .

DAP3 1245 100% .

DAPK1 4393 100% .

DAPK2 1157 99% .

DAPK3 1397 83% .

DAPL1 340 84% .

DAPP1 879 100% .

DARC 2067 100% .

DARS 1570 100% .

DARS2 2006 100% Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

DAXX 3355 100% .

DAZ1 2343 2% .

DAZ2 3540 7% .

DAZ3 4169 8% .

DAZ4 6132 6% .

DAZAP1 1365 95% .

DAZAP2 2252 100% .

DAZL 999 99% .

DBC1 2314 100% .

DBF4 2073 100% .

DBF4B 2595 99% .

DBH 1902 100% Dopamine Beta-Hydroxylase Deficiency

DBI 825 88% .

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DBN1 2102 92% .

DBNDD1 588 92% .

DBNDD2 2131 86% .

DBNL 1538 87% .

DBP 994 51% .

DBR1 1667 100% .

DBT 1493 100% Maple Syrup Urine Disease

DBT 1493 100% Maple Syrup Urine Disease Type 2

DBT 1493 100% Choriodal Dystrophy, Central Areolar 2

DBX1 1048 79% .

DBX2 1036 69% .

DCAF10 1708 85% .

DCAF11 1988 100% .

DCAF12 1398 100% .

DCAF12L1 1396 100% .

DCAF12L2 1396 100% .

DCAF13 1838 100% .

DCAF15 1855 93% .

DCAF16 655 100% .

DCAF17 1619 93% Woodhouse-Sakati Syndrome

DCAF4 2171 100% .

DCAF4L1 1195 100% .

DCAF4L2 1192 100% .

DCAF5 2865 100% .

DCAF6 2944 98% .

DCAF7 1273 100% .

DCAF8 1842 99% .

DCAF8L1 1807 100% .

DCAF8L2 1900 76% .

DCAKD 712 100% .

DCBLD1 1840 94% .

DCBLD2 2392 94% .

DCC 4460 100% .

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DCD 353 89% .

DCDC1 1093 100% .

DCDC2 1615 100% .

DCDC2B 1086 93% .

DCDC5 2633 100% .

DCHS1 9977 96% .

DCHS2 11085 92% .

DCK 811 100% .

DCLK1 2618 99% .

DCLK2 2420 98% .

DCLK3 1963 100% .

DCLRE1A 3159 100% .

DCLRE1B 1615 100% .

DCLRE1C 2259 100% Omenn Syndrome

DCN 1307 100% Congenital Stromal Corneal Dystrophy

DCP1A 1789 100% .

DCP1B 1890 100% .

DCP2 1307 100% .

DCPS 1038 100% .

DCST1 2185 99% .

DCST2 2382 100% .

DCT 1699 100% .

DCTD 713 96% .

DCTN1 4261 98% Distal Hereditary Motor Neuronopathy Type VIIB

DCTN1 4261 98% Perry Syndrome

DCTN2 1263 97% .

DCTN3 847 98% .

DCTN4 1535 98% .

DCTN5 715 80% .

DCTN6 601 98% .

DCTPP1 525 98% .

DCUN1D1 808 100% .

DCUN1D2 808 99% .

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DCUN1D3 923 100% .

DCUN1D4 923 97% .

DCUN1D5 746 100% .

DCX 2006 100% DCX-Related Disorders

DCX 2006 100% Choriodal Dystrophy, Central Areolar 2

DCXR 869 73% .

DDA1 329 72% .

DDAH1 986 95% .

DDAH2 882 100% .

DDB1 3531 98% .

DDB2 1324 100% Xeroderma Pigmentosum

DDB2 1324 100% DDB2-Related Xeroderma Pigmentosum

DDC 1495 100% Aromatic L-Amino Acid Decarboxylase Deficiency

DDC 1495 100% Choriodal Dystrophy, Central Areolar 2

DDHD1 2780 95% .

DDHD2 2449 100% .

DDI1 1195 100% .

DDI2 1236 99% .

DDIT3 798 100% .

DDIT4 707 100% .

DDIT4L 590 100% .

DDN 2144 100% .

DDO 1130 100% .

DDOST 1415 84% Congenital Disorders of Glycosylation

DDOST 1415 84% DDOST-CDG (CDG-Ir)

DDR1 3460 100% .

DDR2 2632 100% Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

DDRGK1 981 89% .

DDT 369 21% .

DDTL 417 30% .

DDX1 2327 99% .

DDX10 2700 100% .

DDX11 3336 100% .

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DDX17 2495 95% .

DDX18 2069 100% .

DDX19A 1485 100% .

DDX19B 1585 98% .

DDX20 2519 97% .

DDX21 2412 100% .

DDX23 2527 100% .

DDX24 2612 100% .

DDX25 1500 96% .

DDX26B 2654 98% .

DDX27 2475 100% .

DDX28 1627 98% .

DDX31 2643 96% .

DDX39A 1324 100% .

DDX39B 1327 100% .

DDX3X 2201 100% .

DDX3Y 2051 99% .

DDX4 2300 98% .

DDX41 1937 100% .

DDX42 2885 100% .

DDX43 2011 100% .

DDX46 3188 100% .

DDX47 1416 100% .

DDX49 1504 91% .

DDX5 1897 99% .

DDX50 2274 97% .

DDX51 2061 75% .

DDX52 1860 100% .

DDX53 1900 99% .

DDX54 2969 93% .

DDX55 1859 94% .

DDX56 1700 100% .

DDX58 2850 100% .

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DDX59 1888 100% .

DDX6 1500 100% .

DDX60 5287 100% .

DDX60L 5269 100% .

DEAF1 1746 81% .

DECR1 1048 100% 2,4-Dienoyl-CoA Reductase Deficiency

DECR1 1048 100% Choriodal Dystrophy, Central Areolar 2

DECR2 911 84% .

DEDD 973 100% .

DEDD2 997 95% .

DEF6 1940 86% .

DEF8 2432 89% .

DEFA1 879 32% .

DEFA1B 879 32% .

DEFA3 293 96% .

DEFA4 302 100% .

DEFA5 293 100% .

DEFA6 311 100% .

DEFB1 215 100% .

DEFB103A 424 0% .

DEFB103B 424 0% .

DEFB104A 454 61% .

DEFB104B 454 61% .

DEFB105A 498 32% .

DEFB105B 498 32% .

DEFB106A 412 88% .

DEFB106B 412 88% .

DEFB107A 442 23% .

DEFB107B 442 23% .

DEFB108B 230 100% .

DEFB110 350 100% .

DEFB112 350 100% .

DEFB113 257 97% .

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DEFB114 218 100% .

DEFB115 275 100% .

DEFB116 317 100% .

DEFB118 380 100% .

DEFB119 715 100% .

DEFB121 265 100% .

DEFB123 212 100% .

DEFB124 224 100% .

DEFB125 479 100% .

DEFB126 344 100% .

DEFB127 308 100% .

DEFB128 290 100% .

DEFB129 560 100% .

DEFB130 496 15% .

DEFB131 221 100% .

DEFB132 296 99% .

DEFB133 194 100% .

DEFB134 209 100% .

DEFB135 242 100% .

DEFB136 245 100% .

DEFB4A 203 31% .

DEGS1 984 91% .

DEGS2 984 91% .

DEK 1168 100% .

DEM1 1126 100% .

DENND1A 3225 84% .

DENND1B 2750 99% .

DENND1C 2498 97% .

DENND2A 3102 97% .

DENND2C 2684 100% .

DENND2D 1464 100% .

DENND3 3685 100% .

DENND4A 5845 98% .

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DENND4B 4599 100% .

DENND4C 5134 100% .

DENND5A 4317 99% .

DENND5B 3909 97% .

DENR 625 98% .

DEPDC1 2484 100% .

DEPDC1B 1634 97% .

DEPDC4 905 100% .

DEPDC5 5132 100% .

DEPDC7 1622 96% .

DEPTOR 1266 100% .

DERA 993 97% .

DERL1 903 100% .

DERL2 748 100% .

DERL3 949 76% .

DES 1449 84% Dilated Cardiomyopathy

DES 1449 84% Myofibrillar Myopathy

DES 1449 84% Desminopathy

DES 1449 84% DES-Related Dilated Cardiomyopathy

DES 1449 84% Neurogenic Scapuloperoneal Syndrome , Kaeser Type

DES 1449 84% Choriodal Dystrophy, Central Areolar 2

DET1 2803 100% .

DEXI 292 96% .

DFFA 1224 100% .

DFFB 1045 99% .

DFNA5 1703 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

DFNA5 1703 100% DFNA 5 Nonsyndromic Hearing Loss and Deafness

DFNB31 3165 97% Usher Syndrome Type 2

DFNB31 3165 97% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

DFNB31 3165 97% Usher Syndrome Type 2D

DFNB31 3165 97% DFNB31 Nonsyndromic Hearing Loss and Deafness

DFNB59 1083 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

DFNB59 1083 100% DFNB59 Nonsyndromic Hearing Loss and Deafness

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DGAT1 1535 84% .

DGAT2 1199 100% .

DGAT2L6 1042 95% .

DGCR14 1471 100% .

DGCR2 1917 93% .

DGCR6 683 96% .

DGCR6L 683 96% .

DGCR8 2374 100% .

DGKA 2300 100% .

DGKB 2610 100% .

DGKD 3928 96% .

DGKE 1748 100% .

DGKG 2472 100% .

DGKH 3986 98% .

DGKI 3334 93% .

DGKK 3927 98% .

DGKQ 2921 72% .

DGKZ 4358 72% .

DGUOK 862 100% DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form

DGUOK 862 100% Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form

DHCR24 1587 100% Desmosterolosis

DHCR7 1456 100% Smith-Lemli-Opitz Syndrome

DHCR7 1456 100% Choriodal Dystrophy, Central Areolar 2

DHDDS 1281 100% Retinitis Pigmentosa, Autosomal Recessive

DHDDS 1281 100% Retinitis Pigmentosa

DHDDS 1281 100% DHDDS-Related Retinitis Pigmentosa

DHDH 1033 89% .

DHFR 588 100% Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency

DHFRL1 568 100% .

DHH 1203 72% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

DHH 1203 72% DHH-Related 46,XY DSD and 46,XY CGD

DHODH 1224 88% Postaxial Acrofacial Dysostosis

DHPS 1276 100% .

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DHRS1 974 100% .

DHRS11 811 83% .

DHRS12 1018 85% .

DHRS13 1154 88% .

DHRS2 1250 100% .

DHRS3 933 100% .

DHRS4 869 100% .

DHRS4L1 886 91% .

DHRS4L2 957 92% .

DHRS7 1048 100% .

DHRS7B 1006 98% .

DHRS7C 1175 100% .

DHRS9 976 100% .

DHRSX 2042 44% .

DHTKD1 2828 99% .

DHX15 2444 100% .

DHX16 3237 100% .

DHX29 4218 100% .

DHX30 3676 100% .

DHX32 2276 100% .

DHX33 2404 99% .

DHX34 3496 94% .

DHX35 2200 100% .

DHX36 3187 100% .

DHX37 3582 97% .

DHX38 3788 94% .

DHX40 2584 93% .

DHX57 4253 100% .

DHX58 2085 100% .

DHX8 3755 100% .

DHX9 3921 100% .

DIABLO 744 100% .

DIAPH1 3931 93% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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DIAPH1 3931 93% DFNA 1 Nonsyndromic Hearing Loss and Deafness

DIAPH2 3468 97% .

DIAPH3 3939 100% .

DICER1 6043 100% Pleuropulmonary Blastoma

DIDO1 7457 98% .

DIEXF 2319 100% .

DIMT1 990 100% .

DIO1 1180 100% .

DIO2 942 100% .

DIO3 919 100% .

DIP2A 5601 96% .

DIP2B 4883 98% .

DIP2C 4819 99% .

DIRAS1 601 100% .

DIRAS2 604 100% .

DIRAS3 694 100% .

DIRC1 319 100% .

DIRC2 1473 91% .

DIS3 3033 96% .

DIS3L 3391 96% .

DIS3L2 2738 96% Perlman Syndrome

DISC1 6041 89% .

DISP1 4603 100% .

DISP2 4238 95% .

DIXDC1 2158 99% .

DKC1 1713 99% Dyskeratosis Congenita

DKC1 1713 99% DKC1-Related Dyskeratosis Congenita

DKC1 1713 99% Choriodal Dystrophy, Central Areolar 2

DKFZp761E198 2470 79% .

DKK1 817 100% .

DKK2 796 100% .

DKK3 1081 96% .

DKK4 691 100% .

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DKKL1 894 100% .

DLAT 2000 100% Dihydrolipoamide Acetyltransferase (E2) Deficiency

DLAT 2000 100% Pyruvate Dehydrogenase Complex Deficiency

DLC1 4890 100% .

DLD 1586 100% Leigh Syndrome (nuclear DNA mutation)

DLD 1586 100% Maple Syrup Urine Disease Type 3

DLD 1586 100% Pyruvate Dehydrogenase Complex Deficiency

DLD 1586 100% Dihydrolipoamide Dehydrogenase (E3) Deficiency

DLEC1 5930 100% .

DLEU7 491 46% .

DLG1 3023 100% .

DLG2 3356 100% .

DLG3 2937 82% X-Linked Mental Retardation 90

DLG4 2490 98% .

DLG5 5888 96% .

DLGAP1 3564 98% .

DLGAP2 2972 100% .

DLGAP3 2980 85% .

DLGAP4 3559 100% .

DLGAP5 2835 99% .

DLK1 1172 99% .

DLK2 1172 89% .

DLL1 2216 83% .

DLL3 2087 63% DLL3-Related Spondylocostal Dysostosis, Autosomal Recessive

DLL3 2087 63% Syndactyly, Type IV

DLL3 2087 63% Spondylocostal Dysostosis

DLL3 2087 63% Spondylocostal Dysostosis, Autosomal Recessive

DLL4 2102 100% .

DLST 1538 98% .

DLX1 1039 100% .

DLX2 999 85% .

DLX3 876 99% Amelogenesis Imperfecta, Type IV

DLX3 876 99% Choriodal Dystrophy, Central Areolar 2

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DLX4 1070 100% .

DLX5 882 100% .

DLX6 894 88% .

DMAP1 1444 98% .

DMBT1 7454 79% .

DMBX1 1363 100% .

DMC1 1075 100% .

DMD 12312 97% Dystrophinopathies

DMD 12312 97% DMD-Associated Dilated Cardiomyopathy

DMD 12312 97% DMD-Related Dilated Cardiomyopathy

DMD 12312 97% Choriodal Dystrophy, Central Areolar 2

DMGDH 2665 96% .

DMKN 1876 95% .

DMP1 1562 100% Hypophosphatemic Rickets, Autosomal Recessive 1

DMPK 2959 80% Myotonic Dystrophy Type 1

DMPK 2959 80% Choriodal Dystrophy, Central Areolar 2

DMRT1 1142 90% .

DMRT2 1755 71% .

DMRT3 1427 95% .

DMRTA1 1523 91% .

DMRTA2 1637 45% .

DMRTB1 1045 74% .

DMRTC1 1206 18% .

DMRTC1B 1206 18% .

DMRTC2 1136 98% .

DMTF1 2446 100% .

DMWD 2045 83% .

DMXL1 9256 99% .

DMXL2 9421 99% .

DNA2 3525 100% .

DNAAF1 2226 95% Primary Ciliary Dyskinesia

DNAAF1 2226 95% Primary Ciliary Dyskinesia13: DNAAF1-Related Primary Ciliary Dyskinesia

DNAAF2 2526 95% Primary Ciliary Dyskinesia

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DNAAF2 2526 95% Primary Ciliary Dyskinesia10: DNAAF2-Related Primary Ciliary Dyskinesia

DNAH1 13106 100% .

DNAH10 13728 99% .

DNAH11 14044 99% Primary Ciliary Dyskinesia

DNAH11 14044 99% Primary Ciliary Dyskinesia 7: DNAH11-Related Primary Ciliary Dyskinesia

DNAH12 9554 62% .

DNAH14 14183 76% .

DNAH17 13709 100% .

DNAH2 13624 100% .

DNAH3 12599 100% .

DNAH5 14191 99% Primary Ciliary Dyskinesia

DNAH5 14191 99% Primary Ciliary Dyskinesia 3: DNAH5-Related Primary Ciliary Dyskinesia

DNAH6 12781 100% .

DNAH7 12335 100% .

DNAH8 13829 100% .

DNAH9 13882 97% .

DNAI1 2180 95% Primary Ciliary Dyskinesia

DNAI1 2180 95% Primary Ciliary Dyskinesia 1: DNAI1-Related Primary Ciliary Dyskinesia

DNAI2 2017 100% Primary Ciliary Dyskinesia

DNAI2 2017 100% Primary Ciliary Dyskinesia 9: DNAI2-Related Primary Ciliary Dyskinesia

DNAJA1 1226 100% .

DNAJA2 1275 100% .

DNAJA3 1514 96% .

DNAJA4 1511 94% .

DNAJB1 1035 100% .

DNAJB11 1117 98% .

DNAJB12 1262 100% .

DNAJB13 983 100% .

DNAJB14 1172 100% .

DNAJB2 1382 100% .

DNAJB3 442 100% .

DNAJB4 1026 100% .

DNAJB5 1714 78% .

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DNAJB6 1162 82% Limb-Girdle Muscular Dystrophy Type 1E

DNAJB6 1162 82% DNAJB6-Related Myofibrillar Myopathy

DNAJB7 934 100% .

DNAJB8 703 100% .

DNAJB9 680 100% .

DNAJC1 1713 94% .

DNAJC10 2470 100% .

DNAJC11 1744 100% .

DNAJC12 815 100% .

DNAJC13 6952 100% .

DNAJC14 2133 100% .

DNAJC15 477 100% .

DNAJC16 2405 100% .

DNAJC17 959 100% .

DNAJC18 1109 100% .

DNAJC19 453 99% 3-Methylglutaconic Aciduria Type 5

DNAJC2 1934 100% .

DNAJC21 1783 99% .

DNAJC22 1034 100% .

DNAJC24 466 100% .

DNAJC25 1099 71% .

DNAJC25-GNG10 470 32% .

DNAJC27 987 100% .

DNAJC28 1171 100% .

DNAJC3 1563 100% .

DNAJC30 685 100% .

DNAJC4 750 91% .

DNAJC5 613 91% Neuronal Ceroid-Lipofuscinoses

DNAJC5 613 91% DNAJC5-Related Neuronal Ceroid-Lipofuscinosis

DNAJC5B 616 100% .

DNAJC5G 586 100% .

DNAJC6 2818 100% .

DNAJC7 1670 100% .

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DNAJC8 798 100% .

DNAJC9 803 94% .

DNAL1 719 100% Primary Ciliary Dyskinesia

DNAL1 719 100% Primary Ciliary Dyskinesia16: DNAL1-Related Primary Ciliary Dyskinesia

DNAL4 330 80% .

DNALI1 867 100% .

DNASE1 881 100% DNASE1-Related Susceptibility to Systemic Lupus Erythematosus

DNASE1L1 937 98% .

DNASE1L2 924 77% .

DNASE1L3 950 100% .

DNASE2 1107 96% .

DNASE2B 1312 100% .

DND1 1078 78% .

DNER 2266 88% .

DNHD1 14586 56% .

DNLZ 549 73% .

DNM1 2704 87% .

DNM1L 2291 100% Lethal Encephalopathy due to Defective Mitochondrial Peroxisomal Fission

DNM2 2914 95% Centronuclear Myopathy 1

DNM2 2914 95% DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy

DNM3 2676 99% .

DNMBP 4798 100% .

DNMT1 5063 97% DNMT1-Related Dementia, Deafness, and Sensory Neuropathy

DNMT3A 3288 95% .

DNMT3B 2842 100% Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

DNMT3L 1381 98% .

DNPEP 1518 100% .

DNTT 1662 100% .

DNTTIP1 1042 92% .

DNTTIP2 2299 100% .

DOC2A 1243 92% .

DOC2B 947 44% .

DOCK1 5806 100% .

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DOCK10 6785 98% .

DOCK11 6434 98% .

DOCK2 5701 99% .

DOCK3 6305 97% .

DOCK4 6109 100% .

DOCK5 5821 100% .

DOCK6 6336 94% .

DOCK7 6526 99% .

DOCK8 7507 98% Autosomal Recessive Hyper IgE Syndrome

DOCK9 6812 98% .

DOHH 925 46% .

DOK1 1564 100% .

DOK2 1259 87% .

DOK3 2054 79% .

DOK4 1013 100% .

DOK5 953 100% .

DOK6 1028 100% .

DOK7 2495 89% Congenital Myasthenic Syndromes

DOK7 2495 89% DOK7-Related Congenital Myasthenic Syndrome

DOK7 2495 89% DOK7-Related Fetal Akinesia Deformation Sequence

DOLK 1621 100% Congenital Disorders of Glycosylation

DOLK 1621 100% DOLK-CDG (CDG-Im)

DOLPP1 749 100% .

DOM3Z 1215 100% .

DONSON 1741 85% .

DOPEY1 7660 100% .

DOPEY2 7041 100% .

DOT1L 4726 96% .

DPAGT1 1263 100% Congenital Disorders of Glycosylation

DPAGT1 1263 100% DPAGT1-CDG (CDG-Ij)

DPCD 636 94% .

DPCR1 4194 83% .

DPEP1 1276 100% .

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DPEP2 1501 92% .

DPEP3 1671 90% .

DPF1 1604 86% .

DPF2 1220 100% .

DPF3 1110 100% .

DPH1 1380 92% .

DPH2 1494 91% .

DPH3 261 100% .

DPH3P1 241 100% .

DPH5 1114 100% .

DPM1 819 100% Congenital Disorders of Glycosylation

DPM1 819 100% DPM1-CDG (CDG-Ie)

DPM2 271 100% .

DPM3 746 99% Congenital Disorders of Glycosylation

DPM3 746 99% DPM3-CDG (CDG-Io)

DPP10 2785 96% .

DPP3 2282 100% .

DPP4 2405 100% .

DPP6 2818 97% .

DPP7 1531 84% .

DPP8 3051 100% .

DPP9 2759 97% .

DPPA2 925 100% .

DPPA3 496 100% .

DPPA4 943 100% .

DPPA5 363 100% .

DPRX 588 100% .

DPT 622 100% .

DPY19L1 2116 96% .

DPY19L2 2365 99% Spermatogenic Failure 9

DPY19L3 2223 100% .

DPY19L4 2248 99% .

DPY30 316 100% .

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DPYD 3213 100% Dihydropyrimidine Dehydrogenase Deficiency

DPYS 1596 83% Dihydropyrimidinase Deficiency

DPYSL2 2226 84% .

DPYSL3 2154 83% .

DPYSL4 1775 97% .

DPYSL5 1743 100% .

DQX1 2198 100% .

DR1 543 100% .

DRAM1 745 82% .

DRAM2 829 100% .

DRAP1 646 93% .

DRD1 1345 100% .

DRD2 1360 100% .

DRD3 1801 100% Hereditary Essential Tremor 1

DRD4 1276 48% .

DRD5 1438 99% .

DRG1 1140 100% .

DRG2 1147 90% .

DRGX 831 100% .

DROSHA 4257 100% .

DRP2 3130 93% .

DSC1 2789 100% .

DSC2 2810 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

DSC2 2810 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy11

DSC3 2786 97% .

DSCAM 6171 100% .

DSCAML1 6474 96% .

DSCC1 1218 90% .

DSCR3 926 100% .

DSCR4 369 100% .

DSCR6 589 82% .

DSE 2897 96% .

DSEL 3673 100% .

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DSG1 3210 100% .

DSG2 3417 99% Dilated Cardiomyopathy

DSG2 3417 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

DSG2 3417 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10

DSG2 3417 99% DSG2-Related Dilated Cardiomyopathy

DSG3 3064 100% .

DSG4 3651 100% Localized Autosomal Recessive Hypotrichosis

DSN1 1436 100% .

DSP 11011 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

DSP 11011 99% Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma

DSP 11011 99% Skin Fragility-Woolly Hair Syndrome

DSP 11011 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8

DSP 11011 99% Epidermolysis Bullosa, Lethal Acantholytic

DSP 11011 99% Ectodermal Dysplasia/Skin Fragility Syndrome

DSP 11011 99% DSP-Related Ectodermal Dysplasia/Skin Fragility Syndrome

DSP 11011 99% Choriodal Dystrophy, Central Areolar 2

DSPP 3922 46% Dentin Dysplasia, Type II

DSPP 3922 46% Dentinogenesis Imperfecta 1

DSPP 3922 46% Dentinogenesis Imperfecta, Shields Type III

DST 20492 100% .

DSTN 826 99% .

DSTYK 2842 99% .

DTD1 650 92% .

DTHD1 2403 79% .

DTL 2253 100% .

DTNA 3000 92% Familial Isolated Noncompaction of Left Ventricular Myocardium

DTNA 3000 92% Choriodal Dystrophy, Central Areolar 2

DTNB 2178 100% .

DTNBP1 1446 100% Hermansky-Pudlak Syndrome

DTNBP1 1446 100% Hermansky-Pudlak Syndrome 7

DTWD1 931 100% .

DTWD2 921 96% .

DTX1 1899 76% .

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DTX2 1905 89% .

DTX3 1060 100% .

DTX3L 2243 100% .

DTX4 1896 100% .

DTYMK 861 92% .

DUOX1 4788 94% .

DUOX2 4779 91% Congenital Hypothyroidism, DUOX2-Related

DUOX2 4779 91% Congenital Hypothyroidism

DUOXA1 2133 99% .

DUOXA2 1348 99% .

DUPD1 675 100% .

DUS1L 1474 100% .

DUS2L 1542 100% .

DUS3L 2298 91% .

DUS4L 978 100% .

DUSP1 1120 79% .

DUSP10 1837 100% .

DUSP11 1170 100% .

DUSP12 1047 98% .

DUSP13 1653 83% .

DUSP14 601 100% .

DUSP15 912 68% .

DUSP16 2022 100% .

DUSP18 571 100% .

DUSP19 670 100% .

DUSP2 961 51% .

DUSP21 577 100% .

DUSP22 587 100% .

DUSP23 461 41% .

DUSP26 648 100% .

DUSP27 3497 96% .

DUSP28 539 66% .

DUSP3 570 78% .

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DUSP4 1365 97% .

DUSP5 1171 100% .

DUSP6 1158 100% .

DUSP7 1272 82% .

DUSP8 1902 49% .

DUSP9 1167 68% .

DUT 1121 84% .

DUX2 14862 3% .

DUX4 7302 0% Facioscapulohumeral Muscular Dystrophy

DUX4L2 15800 9% .

DUX4L3 17262 8% .

DUX4L4 5842 2% .

DUX4L5 17262 8% .

DUX4L6 17262 8% .

DUX4L7 5578 13% .

DUXA 639 100% .

DVL1 2073 85% .

DVL2 2271 100% .

DVL3 2211 100% .

DYDC1 558 100% .

DYDC2 546 100% .

DYM 2074 100% Dyggve-Melchior-Clausen Syndrome

DYM 2074 100% Smith-McCort Dysplasia

DYNC1H1 14253 99% Charcot-Marie-Tooth Neuropathy Type 2

DYNC1H1 14253 99% Charcot-Marie-Tooth Neuropathy Type 2O

DYNC1H1 14253 99% Mental Retardation, Autosomal Dominant 13

DYNC1H1 14253 99% Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

DYNC1I1 2148 100% .

DYNC1I2 1985 100% .

DYNC1LI1 1624 99% .

DYNC1LI2 1531 100% .

DYNC2H1 13305 98% Short Rib Polydactyly Syndrome, Verma-Naumoff Type

DYNC2H1 13305 98% Asphyxiating Thoracic Dystrophy 3

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DYNC2H1 13305 98% Asphyxiating Thoracic Dystrophy

DYNC2LI1 1576 100% .

DYNLL1 278 100% .

DYNLL2 278 100% .

DYNLRB1 307 100% .

DYNLRB2 307 99% .

DYNLT1 362 100% .

DYNLT3 371 91% .

DYRK1A 3382 100% .

DYRK1B 2570 60% .

DYRK2 3430 99% .

DYRK3 1800 96% .

DYRK4 1607 100% .

DYSF 6722 94% Limb-Girdle Muscular Dystrophies, Autosomal Recessive

DYSF 6722 94% Dysferlinopathy

DYTN 1785 100% .

DYX1C1 1516 100% .

DZANK1 2339 100% .

DZIP1 2684 99% .

DZIP1L 2373 99% .

DZIP3 3751 100% .

E2F1 1342 76% .

E2F2 1342 94% .

E2F3 1650 98% .

E2F4 1282 91% .

E2F5 1291 89% .

E2F6 874 95% .

E2F7 2784 100% .

E2F8 2652 100% .

E4F1 2411 82% .

EAF1 831 87% .

EAF2 807 100% .

EAPP 882 100% .

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EARS2 1608 99% .

EBAG9 666 100% .

EBF1 1840 90% .

EBF2 1792 97% .

EBF3 1720 100% .

EBF4 1865 59% .

EBI3 710 99% .

EBLN2 823 98% .

EBNA1BP2 1219 88% .

EBP 709 88% Chondrodysplasia Punctata 2, X-Linked

EBPL 637 98% .

ECD 2090 95% .

ECE1 2921 93% Hirschsprung Disease

ECE1 2921 93% ECE1-Related Hirschsprung Disease

ECE1 2921 93% Choriodal Dystrophy, Central Areolar 2

ECE2 3521 98% .

ECEL1 2396 85% .

ECH1 1027 95% .

ECHDC1 1406 100% .

ECHDC2 919 96% .

ECHDC3 932 80% .

ECHS1 905 90% .

ECI1 1063 84% .

ECI2 1392 100% .

ECM1 1854 100% .

ECM2 2784 100% .

ECSCR 350 49% .

ECSIT 1697 94% .

ECT2 2744 100% .

ECT2L 2795 100% .

EDA 1549 90% Hypohidrotic Ectodermal Dysplasia, X-Linked

EDA 1549 90% Hypohidrotic Ectodermal Dysplasia

EDA 1549 90% Tooth Agenesis, Selective, X-Linked, 1

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EDA 1549 90% Choriodal Dystrophy, Central Areolar 2

EDA2R 1295 92% .

EDAR 1391 97% Hypohidrotic Ectodermal Dysplasia, Autosomal

EDAR 1391 97% Hypohidrotic Ectodermal Dysplasia

EDAR 1391 97% Choriodal Dystrophy, Central Areolar 2

EDARADD 707 95% Hypohidrotic Ectodermal Dysplasia, Autosomal

EDARADD 707 95% Hypohidrotic Ectodermal Dysplasia

EDARADD 707 95% Choriodal Dystrophy, Central Areolar 2

EDC3 1551 100% .

EDC4 4322 98% .

EDDM3A 448 100% .

EDDM3B 448 100% .

EDEM1 2022 94% .

EDEM2 1781 100% .

EDEM3 2879 100% .

EDF1 635 100% .

EDIL3 1487 100% .

EDN1 832 100% .

EDN2 557 88% .

EDN3 1135 100% Hirschsprung Disease

EDN3 1135 100% EDN3-Related Hirschsprung Disease

EDN3 1135 100% Waardenburg Syndrome Type IVB

EDN3 1135 100% Choriodal Dystrophy, Central Areolar 2

EDNRA 1515 100% .

EDNRB 1965 99% Hirschsprung Disease

EDNRB 1965 99% EDNRB-Related Hirschsprung Disease

EDNRB 1965 99% Waardenburg Syndrome Type IVA

EDNRB 1965 99% Choriodal Dystrophy, Central Areolar 2

EEA1 4352 100% .

EED 1460 100% .

EEF1A1 1417 100% .

EEF1A2 1420 80% .

EEF1B2 702 100% .

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EEF1D 2208 98% .

EEF1E1 581 93% .

EEF1G 1354 100% .

EEF2 2637 90% .

EEF2K 2246 99% .

EEFSEC 1819 92% .

EEPD1 1738 100% .

EFCAB1 660 100% .

EFCAB11 516 100% .

EFCAB2 550 89% .

EFCAB3 1616 91% .

EFCAB4A 917 63% .

EFCAB4B 2480 76% .

EFCAB5 4860 97% .

EFCAB6 4697 100% .

EFCAB7 1942 100% .

EFCAB9 610 100% .

EFEMP1 1522 100% Doyne Honeycomb Retinal Dystrophy

EFEMP1 1522 100% Choriodal Dystrophy, Central Areolar 2

EFEMP2 1372 88% FBLN4 (EFEMP2)-Related Cutis Laxa

EFEMP2 1372 88% EFEMP2-Related Cutis Laxa

EFHA1 1353 100% .

EFHA2 1649 84% .

EFHB 2554 100% .

EFHC1 1977 100% Juvenile Myoclonic Epilepsy

EFHC1 1977 100% EFHC1-Related Juvenile Myoclonic Epilepsy

EFHC2 2310 99% .

EFHD1 736 79% .

EFHD2 739 90% .

EFNA1 638 100% .

EFNA2 658 75% .

EFNA3 737 82% .

EFNA4 980 90% .

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EFNA5 707 98% .

EFNB1 1061 83% Craniofrontonasal Syndrome

EFNB2 1022 100% .

EFNB3 1043 95% .

EFR3A 2558 99% .

EFR3B 2546 86% .

EFS 1710 99% .

EFTUD1 3439 100% .

EFTUD2 3027 100% .

EGF 3720 100% Renal Hypomagnesemia 4

EGFL6 1822 100% .

EGFL7 854 71% .

EGFL8 914 100% .

EGFLAM 3280 98% .

EGFR 4098 100% Lung Cancer

EGFR 4098 100% Lung Cancer, EGFR-Related

EGLN1 1301 86% Familial Erythrocytosis 3

EGLN2 1244 100% .

EGLN3 740 100% .

EGR1 1640 100% .

EGR2 1612 100% Charcot-Marie-Tooth Neuropathy Type 1

EGR2 1612 100% Charcot-Marie-Tooth Neuropathy Type 4

EGR2 1612 100% Charcot-Marie-Tooth Neuropathy Type 4E

EGR2 1612 100% Charcot-Marie-Tooth Neuropathy Type 1D

EGR3 2186 100% .

EGR4 1778 70% .

EHBP1 3792 99% .

EHBP1L1 4648 86% .

EHD1 1625 99% .

EHD2 1652 98% .

EHD3 1632 100% .

EHD4 1650 99% .

EHF 1036 100% .

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EHHADH 2377 100% .

EHMT1 4054 98% Kleefstra Syndrome

EHMT2 3745 99% .

EI24 1229 99% .

EID1 568 100% .

EID2 715 97% .

EID2B 490 100% .

EID3 1006 100% .

EIF1 358 100% .

EIF1AD 518 100% .

EIF1AX 463 96% .

EIF1AY 463 92% .

EIF1B 358 100% .

EIF2A 1814 100% .

EIF2AK1 2018 100% .

EIF2AK2 1716 100% .

EIF2AK3 3419 96% Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus

EIF2AK4 5106 100% .

EIF2B1 954 100% Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter

EIF2B1 954 100% EIF2B1-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter

EIF2B1 954 100% Choriodal Dystrophy, Central Areolar 2













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EIF2C1 2650 100% .

EIF2C2 2656 99% .

EIF2C3 2798 100% .

EIF2C4 2658 99% .

EIF2D 1815 100% .

EIF2S1 976 100% .

EIF2S2 1038 100% .

EIF2S3 1467 100% .

EIF3A 4237 100% .

EIF3B 2517 83% .

EIF3C 5647 9% .

EIF3CL 5647 9% .

EIF3D 1703 100% .

EIF3E 1390 100% .

EIF3F 1106 100% .

EIF3G 1007 100% .

EIF3H 1091 100% .

EIF3I 1022 100% .

EIF3J 809 93% .

EIF3K 689 100% .

EIF3L 1747 100% .

EIF3M 1169 100% .

EIF4A1 1498 100% .

EIF4A2 1268 100% .

EIF4A3 1284 100% .

EIF4B 1896 100% .

EIF4E 861 78% .

EIF4E1B 757 97% .

EIF4E2 766 93% .

EIF4E3 802 76% .

EIF4EBP1 369 60% .

EIF4EBP2 375 98% .

EIF4EBP3 315 66% .

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EIF4ENIF1 3417 100% .

EIF4G1 5540 99% .

EIF4G2 2808 100% .

EIF4G3 5192 97% .

EIF4H 775 100% .

EIF5 1336 100% .

EIF5A 765 100% .

EIF5A2 478 100% .

EIF5AL1 469 100% .

EIF5B 3759 100% .

EIF6 1509 100% .

ELAC1 1104 100% .

ELAC2 2667 95% Prostate Cancer

ELANE 824 95% Cyclic Neutropenia

ELANE 824 95% ELANE-Related Neutropenia

ELANE 824 95% Choriodal Dystrophy, Central Areolar 2

ELAVL1 1001 100% .

ELAVL2 1104 100% .

ELAVL3 1488 99% .

ELAVL4 1644 99% .

ELF1 2064 100% .

ELF2 2054 100% .

ELF3 1148 100% .

ELF4 2024 100% .

ELF5 955 100% .

ELFN1 2491 71% .

ELFN2 2467 97% .

ELK1 1307 61% .

ELK3 1240 100% .

ELK4 2465 100% .

ELL 1914 88% .

ELL2 1971 100% .

ELL3 1238 99% .

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ELMO1 2436 100% .

ELMO2 2243 100% .

ELMO3 2402 100% .

ELMOD1 1049 100% .

ELMOD2 914 100% .

ELMOD3 1788 100% .

ELN 2392 95% Williams Syndrome

ELN 2392 95% Supravalvular Aortic Stenosis

ELN 2392 95% ELN-Related Cutis Laxa

ELN 2392 95% Choriodal Dystrophy, Central Areolar 2

ELOF1 264 100% .

ELOVL1 953 100% .

ELOVL2 923 100% .

ELOVL3 829 100% .

ELOVL4 969 100% Stargardt Disease 3

ELOVL4 969 100% Choriodal Dystrophy, Central Areolar 2

ELOVL5 1076 100% .

ELOVL6 814 100% .

ELOVL7 874 100% .

ELP2 2569 100% .

ELP3 1704 100% .

ELP4 1315 100% .

ELSPBP1 692 100% .

ELTD1 2133 99% .

EMB 1020 89% .

EMCN 830 100% .

EMD 789 94% EMD-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

EMD 789 94% Emery-Dreifuss Muscular Dystrophy

EMD 789 94% Choriodal Dystrophy, Central Areolar 2

EME1 1945 100% .

EME2 1367 83% .

EMG1 929 100% .

EMID1 1392 77% .

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EMID2 1371 80% .

EMILIN1 3083 84% .

EMILIN2 3194 86% .

EMILIN3 2317 93% .

EML1 2597 97% .

EML2 2679 74% .

EML3 2779 99% .

EML4 3038 100% .

EML5 6106 97% .

EML6 6041 99% .

EMP1 490 100% .

EMP2 520 100% .

EMP3 508 100% .

EMR1 2940 100% .

EMR2 2780 100% .

EMR3 2023 100% .

EMX1 885 61% .

EMX2 943 91% Familial Schizencephaly, EMX2-Related

EN1 1187 71% .

EN2 1010 49% .

ENAH 1836 93% .

ENAM 3461 100% Amelogenesis Imperfecta, Type IB

ENAM 3461 100% Amelogenesis Imperfecta, Type IB (319274)

ENAM 3461 100% Amelogenesis Imperfecta, Type IC

ENC1 1774 100% .

ENDOD1 1511 88% .

ENDOG 906 42% .

ENDOU 1273 86% .

ENDOV 1136 97% .

ENG 2204 85% Hereditary Hemorrhagic Telangiectasia

ENG 2204 85% ENG-Related Hereditary Hemorrhagic Telangiectasia

ENG 2204 85% ENG-Related Juvenile Polyposis

ENG 2204 85% Choriodal Dystrophy, Central Areolar 2

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ENGASE 2288 95% .

ENHO 235 100% .

ENKUR 795 100% .

ENO1 1423 100% .

ENO2 1349 100% .

ENO3 1349 100% Glycogen Storage Disease XIII

ENOPH1 810 100% .

ENOSF1 1885 75% .

ENOX1 1988 100% .

ENOX2 2024 99% .

ENPEP 2954 100% .

ENPP1 2878 92% Arterial Calcification of Infancy

ENPP1 2878 92% Hypophosphatemic Rickets, Autosomal Recessive 2

ENPP1 2878 92% Arterial Calcification, Generalized, of Infancy

ENPP2 2931 99% .

ENPP3 2728 100% .

ENPP4 1374 100% .

ENPP5 1446 100% .

ENPP6 1355 100% .

ENPP7 1397 100% .

ENSA 1062 98% .

ENTHD1 1848 100% .

ENTPD1 2254 97% .

ENTPD2 1663 70% .

ENTPD3 1630 100% .

ENTPD4 2058 100% .

ENTPD5 1339 100% .

ENTPD6 1518 96% .

ENTPD7 1863 100% .

ENTPD8 1524 97% .

ENY2 407 100% .

EOMES 2085 75% .

EP300 7369 100% Rubinstein-Taybi Syndrome

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EP300 7369 100% EP300-Related Rubinstein-Taybi Syndrome

EP400 9577 96% .

EPAS1 2677 97% Familial Erythrocytosis 4

EPB41 3111 100% .

EPB41L1 2899 100% .

EPB41L2 3658 100% .

EPB41L3 3348 100% .

EPB41L4A 2153 99% .

EPB41L4B 2959 88% .

EPB41L5 2554 100% .

EPB42 2322 100% Spherocytosis, Type 5

EPB49 1369 98% .

EPC1 2571 100% .

EPC2 2480 100% .

EPCAM 981 92% Lynch Syndrome

EPCAM 981 92% EPCAM-Related Lynch Syndrome

EPDR1 1248 99% .

EPG5 7916 100% .

EPGN 418 100% .

EPHA1 3003 95% .

EPHA10 3854 81% .

EPHA2 2999 95% Cataract, Age-Related Cortical, 2

EPHA3 3239 100% .

EPHA4 3029 100% .

EPHA5 3186 97% .

EPHA6 3749 100% .

EPHA7 3065 100% .

EPHA8 3772 96% .

EPHB1 3019 100% .

EPHB2 3100 98% .

EPHB3 3061 96% .

EPHB4 3032 92% .

EPHB6 3130 100% .

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EPHX1 1400 100% .

EPHX2 1744 98% .

EPHX3 1111 89% .

EPHX4 1117 99% .

EPM2A 1328 78% Progressive Myoclonus Epilepsy, Lafora Type

EPM2A 1328 78% EPM2A-Related Lafora Disease

EPM2A 1328 78% Choriodal Dystrophy, Central Areolar 2

EPM2AIP1 1828 100% .

EPN1 2536 88% .

EPN2 2079 96% .

EPN3 1935 97% .

EPO 602 98% .

EPOR 1559 82% Familial Erythrocytosis 1

EPPK1 7267 99% .

EPRS 4667 100% .

EPS15 3064 99% .

EPS15L1 2687 98% .

EPS8 2549 100% .

EPS8L1 2300 76% .

EPS8L2 2228 72% .

EPS8L3 2207 98% .

EPSTI1 1542 100% .

EPT1 1346 100% .

EPX 2196 100% .

EPYC 993 100% .

ERAL1 1354 100% .

ERAP1 3091 100% .

ERAP2 2955 100% .

ERAS 706 82% .

ERBB2 4032 98% .

ERBB2IP 4386 100% .

ERBB3 4594 99% .

ERBB4 4039 100% .

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ERC1 3423 100% .

ERC2 2928 100% .

ERCC1 1261 95% Xeroderma Pigmentosum

ERCC1 1261 95% ERCC1-Related Xeroderma Pigmentosum









ERCC6 4562 100% Age-Related Macular Degeneration

ERCC6 4562 100% Cockayne Syndrome

ERCC6 4562 100% ERCC6-Related Cockayne Syndrome

ERCC6 4562 100% Age-Related Macular Degeneration 5

ERCC6 4562 100% Choriodal Dystrophy, Central Areolar 2

ERCC6L 3761 99% .

ERCC8 1239 100% Cockayne Syndrome

ERCC8 1239 100% ERCC8-Related Cockayne Syndrome

EREG 530 99% .

ERF 1663 96% .

ERG 1679 96% .

ERGIC1 913 97% .

ERGIC2 1186 100% .

ERGIC3 1223 100% .

ERH 331 100% .

ERI1 1078 90% .

ERI2 2502 99% .

ERI3 1050 100% .

ERICH1 1356 98% .

ERLEC1 1508 100% .

ERLIN1 1091 100% .

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ERLIN2 1103 100% .

ERMAP 1468 100% .

ERMN 1187 100% .

ERMP1 2775 94% .

ERN1 3022 97% .

ERN2 3013 94% .

ERO1L 1471 95% .

ERO1LB 1468 93% .

ERP27 850 100% .

ERP29 1305 100% .

ERP44 1269 100% .

ERRFI1 1401 100% .

ERV3-1 1819 84% .

ERVFRD-1 1621 55% .

ERVV-1 1438 0% .

ERVV-2 1612 0% .

ESAM 1201 100% .

ESCO1 2559 100% .

ESCO2 1846 100% Roberts Syndrome

ESD 881 100% .

ESF1 2608 100% .

ESM1 567 100% .

ESPL1 6483 99% .

ESPN 2617 69% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

ESPN 2617 69% DFNB36 Nonsyndromic Hearing Loss and Deafness

ESPNL 3054 64% .

ESR1 1820 93% .

ESR2 1896 100% .

ESRP1 2359 98% .

ESRP2 2214 100% .

ESRRA 1296 95% .

ESRRB 1559 94% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

ESRRB 1559 94% DFNB35 Nonsyndromic Hearing Loss and Deafness

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ESRRG 2278 100% .

ESX1 1237 98% .

ESYT1 3575 100% .

ESYT2 2770 86% .

ESYT3 2753 92% .

ETAA1 2805 97% .

ETF1 1354 100% .

ETFA 1050 96% Multiple Acyl-CoA Dehydrogenase Deficiency

ETFA 1050 96% Choriodal Dystrophy, Central Areolar 2

ETFB 1615 98% Multiple Acyl-CoA Dehydrogenase Deficiency

ETFB 1615 98% Choriodal Dystrophy, Central Areolar 2

ETFDH 1906 100% Multiple Acyl-CoA Dehydrogenase Deficiency

ETFDH 1906 100% Choriodal Dystrophy, Central Areolar 2

ETHE1 793 90% Ethylmalonic Encephalopathy

ETNK1 1489 96% .

ETNK2 1193 77% .

ETS1 1580 100% .

ETS2 1446 100% .

ETV1 1547 100% .

ETV2 1053 97% .

ETV3 1739 100% .

ETV3L 1106 95% .

ETV4 1503 91% .

ETV5 1581 100% .

ETV6 1391 100% .

ETV7 1631 87% .

EVC 3063 88% Ellis-van Creveld Syndrome

EVC 3063 88% EVC-Related Ellis-van Creveld Syndrome

EVC 3063 88% Weyers Acrofacial Dysostosis

EVC 3063 88% Choriodal Dystrophy, Central Areolar 2

EVC2 4074 93% Ellis-van Creveld Syndrome

EVC2 4074 93% EVC2-Related Ellis-van Creveld Syndrome

EVI2A 1513 100% .

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EVI2B 1351 100% .

EVI5 2505 100% .

EVI5L 2494 64% .

EVL 1313 95% .

EVPL 6190 96% .

EVPLL 942 83% .

EVX1 1236 91% .

EVX2 1443 68% .

EWSR1 2198 100% .

EXD1 1585 100% .

EXD2 2159 100% .

EXD3 2715 87% .

EXO1 2733 100% .

EXOC1 2757 100% .

EXOC2 2883 100% .

EXOC3 2286 96% .

EXOC3L1 2293 90% .

EXOC3L2 1266 85% .

EXOC3L4 2213 57% .

EXOC4 3006 100% .

EXOC5 2199 100% .

EXOC6 2593 100% .

EXOC6B 2524 100% .

EXOC7 2445 91% .

EXOC8 2182 100% .

EXOG 1131 100% .

EXOSC1 620 100% .

EXOSC10 2758 100% .

EXOSC2 918 100% .

EXOSC3 1050 100% Pontocerebellar Hypoplasia, Type 1B

EXOSC4 750 83% .

EXOSC5 732 88% .

EXOSC6 823 15% .

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EXOSC7 908 95% .

EXOSC8 875 98% .

EXOSC9 1423 96% .

EXPH5 5994 100% .

EXT1 2285 100% Hereditary Multiple Osteochondromas

EXT1 2285 100% Langer-Giedion Syndrome

EXT1 2285 100% Hereditary Multiple Osteochondromatosis, Type I

EXT1 2285 100% Choriodal Dystrophy, Central Areolar 2

EXT2 3115 98% Hereditary Multiple Osteochondromas

EXT2 3115 98% Hereditary Multiple Osteochondromatosis, Type II

EXT2 3115 98% Choriodal Dystrophy, Central Areolar 2

EXTL1 2075 92% .

EXTL2 1009 100% .

EXTL3 2780 100% .

EYA1 2014 100% Branchiootorenal Spectrum Disorders

EYA1 2014 100% EYA1-Related Branchiootorenal Spectrum Disorders

EYA1 2014 100% Otofaciocervical Syndrome

EYA1 2014 100% Choriodal Dystrophy, Central Areolar 2

EYA2 1677 97% .

EYA3 1790 100% .

EYA4 2101 100% Dilated Cardiomyopathy

EYA4 2101 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

EYA4 2101 100% DFNA10 Nonsyndromic Hearing Loss and Deafness

EYA4 2101 100% EYA4-Related Dilated Cardiomyopathy

EYA4 2101 100% Choriodal Dystrophy, Central Areolar 2

EYS 9902 68% Retinitis Pigmentosa, Autosomal Recessive

EYS 9902 68% Retinitis Pigmentosa

EYS 9902 68% EYS-Related Retinitis Pigmentosa

EZH1 2320 98% .

EZH2 2648 100% Weaver Syndrome 2

EZR 1813 100% .

F10 1499 100% Factor X Deficiency

F11 1934 100% Factor XI Deficiency

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F11 1934 100% Choriodal Dystrophy, Central Areolar 2

F11R 940 100% .

F12 1904 90% Factor XII Deficiency

F12 1904 90% Hereditary Angioedema Type III

F13A1 2255 100% Factor XIII Subunit A Deficiency

F13B 2034 100% Factor XIII Subunit B Deficiency

F2 1925 96% Prothrombin-Related Thrombophilia

F2 1925 96% Prothrombin Deficiency


F2R 1286 96% .

F2RL1 1202 96% .

F2RL2 1133 100% .

F2RL3 1166 88% .

F3 1053 95% .

F5 6775 100% Factor V Leiden Thrombophilia

F5 6775 100% Factor V R2 Mutation Thrombophilia

F5 6775 100% Factor V Cambridge Thrombophilia

F5 6775 100% Factor V Deficiency

F5 6775 100% Budd-Chiari Syndrome

F5 6775 100% F5-Related Budd-Chiari Syndrome


F7 1437 84% Factor VII Deficiency


F8 7188 100% Hemophilia A


F8A1 3360 7% .

F8A2 3360 7% .

F8A3 3360 7% .

F9 1418 100% Hemophilia B


FA2H 1147 75% Fatty Acid Hydroxylase-Associated Neurodegeneration

FAAH 1800 84% .

FAAH2 1643 99% .

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FABP1 400 100% .

FABP12 439 100% .

FABP2 415 100% .

FABP3 418 100% .

FABP4 415 100% .

FABP5 424 84% .

FABP6 641 100% .

FABP7 415 100% .

FABP9 415 100% .

FADD 635 100% .

FADS1 1554 83% .

FADS2 1383 97% .

FADS3 1386 79% .

FADS6 1077 94% .

FAF1 2029 96% .

FAF2 1382 96% .

FAH 1316 100% Tyrosinemia Type I

FAH 1316 100% Choriodal Dystrophy, Central Areolar 2

FAHD1 1661 93% .

FAHD2A 973 100% .

FAHD2B 973 100% .

FAIM 847 100% .

FAIM2 999 98% .

FAIM3 1338 83% .

FAM100A 546 73% .

FAM100B 507 62% .

FAM101A 416 100% .

FAM101B 444 100% .

FAM102A 1250 78% .

FAM102B 1127 100% .

FAM103A1 365 100% .

FAM104A 640 100% .

FAM104B 1190 96% .

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FAM105A 1103 94% .

FAM105B 1087 87% .

FAM107A 447 100% .

FAM107B 941 100% .

FAM108A1 1106 100% .

FAM108B1 1134 100% .

FAM108C1 1002 73% .

FAM109A 1587 73% .

FAM109B 784 100% .

FAM110A 892 80% .

FAM110B 1117 100% .

FAM110C 974 79% .

FAM110D 820 17% .

FAM111A 1844 100% .

FAM111B 4341 100% .

FAM113A 1393 99% .

FAM113B 1303 99% .

FAM114A1 1744 100% .

FAM114A2 1570 100% .

FAM115A 4052 35% .

FAM115C 3515 60% .

FAM116A 1907 97% .

FAM116B 1838 86% .

FAM117A 1394 88% .

FAM117B 1802 66% .

FAM118A 1106 100% .

FAM118B 1084 100% .

FAM120A 3749 94% .

FAM120AOS 1014 88% .

FAM120B 2769 98% .

FAM120C 3377 90% .

FAM122A 868 100% .

FAM122B 1070 100% .

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FAM122C 1500 84% .

FAM123A 6060 91% .

FAM123B 3412 97% Osteopathia Striata with Cranial Sclerosis

FAM123C 2590 99% .

FAM124A 1769 89% .

FAM124B 1467 94% .

FAM125A 858 97% .

FAM125B 1135 85% .

FAM126A 1606 100% Hypomyelination and Congenital Cataract

FAM126B 1633 100% .

FAM127A 346 100% .

FAM127B 756 100% .

FAM127C 346 100% .

FAM129A 2843 98% .

FAM129B 2317 97% .

FAM129C 2275 77% .

FAM131A 1223 97% .

FAM131B 1225 95% .

FAM131C 871 72% .

FAM132A 941 61% .

FAM133A 751 100% .

FAM133B 890 100% .

FAM134A 1668 83% .

FAM134B 1569 91% Hereditary Sensory and Autonomic Neuropathy Type IIB

FAM134B 1569 91% Hereditary Sensory and Autonomic Neuropathy Type II

FAM134C 1437 100% .

FAM135A 7210 100% .

FAM135B 4297 100% .

FAM136A 429 100% .

FAM13A 3201 100% .

FAM13B 3119 100% .

FAM13C 2227 100% .

FAM149A 1493 100% .

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FAM149B1 1805 97% .

FAM150A 406 52% .

FAM150B 479 46% .

FAM151A 1790 100% .

FAM151B 855 97% .

FAM153A 1009 85% .

FAM153B 1248 94% .

FAM154A 1441 100% .

FAM154B 1209 97% .

FAM155A 1389 100% .

FAM155B 1431 79% .

FAM156A 1292 0% .

FAM156B 1292 0% .

FAM157A 1176 18% .

FAM157B 1179 2% .

FAM158A 647 100% .

FAM159A 585 100% .

FAM159B 495 99% .

FAM160A1 3167 38% .

FAM160A2 3215 100% .

FAM160B1 2395 98% .

FAM160B2 2300 97% .

FAM161A 2007 100% Retinitis Pigmentosa, Autosomal Recessive

FAM161A 2007 100% Retinitis Pigmentosa

FAM161A 2007 100% FAM161A-Related Retinitis Pigmentosa

FAM161B 1980 100% .

FAM162A 485 93% .

FAM162B 505 67% .

FAM163A 512 81% .

FAM163B 509 27% .

FAM164A 1014 98% .

FAM164C 2758 100% .

FAM165B 185 100% .

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FAM166A 982 100% .

FAM166B 1051 98% .

FAM167A 653 100% .

FAM167B 500 81% .

FAM168A 732 100% .

FAM168B 608 82% .

FAM169A 2061 100% .

FAM169B 599 100% .

FAM170A 1006 100% .

FAM170B 860 91% .

FAM171A1 2705 96% .

FAM171A2 2513 45% .

FAM171B 2513 100% .

FAM172A 1397 100% .

FAM173A 728 42% .

FAM173B 722 100% .

FAM174A 585 100% .

FAM174B 492 68% .

FAM175A 1266 100% .

FAM175B 1284 100% .

FAM176A 467 100% .

FAM176B 506 75% .

FAM177A1 900 84% .

FAM177B 493 100% .

FAM178A 3969 100% .

FAM178B 2269 63% .

FAM179A 3136 97% .

FAM179B 5239 100% .

FAM180A 534 100% .

FAM180B 564 97% .

FAM181A 2043 100% .

FAM181B 1285 46% .

FAM183A 421 100% .

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FAM184A 4354 97% .

FAM184B 3255 80% .

FAM185A 1666 100% .

FAM186A 7088 10% .

FAM186B 2710 100% .

FAM187B 1118 97% .

FAM188A 1398 100% .

FAM188B 2346 97% .

FAM189A1 1664 67% .

FAM189A2 1393 100% .

FAM189B 2055 81% .

FAM18A 670 94% .

FAM18B1 646 98% .

FAM18B2 1009 97% .

FAM18B2-CDRT4 482 98% .

FAM190A 2771 74% .

FAM190B 2545 100% .

FAM192A 789 100% .

FAM193A 3743 100% .

FAM193B 2501 78% .

FAM194A 2048 100% .

FAM194B 2143 100% .

FAM195A 503 44% .

FAM195B 310 0% .

FAM196A 1452 100% .

FAM196B 1620 100% .

FAM198A 1748 88% .

FAM198B 1900 100% .

FAM199X 1191 99% .

FAM19A1 418 100% .

FAM19A2 412 100% .

FAM19A3 779 99% .

FAM19A4 443 100% .

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FAM19A5 510 99% .

FAM200A 1726 15% .

FAM200B 1978 0% .

FAM203A 2394 6% .

FAM204A 730 100% .

FAM205A 4024 96% .

FAM206A 570 95% .

FAM207A 717 66% .

FAM208A 6204 79% .

FAM208B 7365 100% .

FAM209A 524 100% .

FAM209B 524 100% .

FAM20A 1859 94% .

FAM20B 1258 100% .

FAM20C 1795 34% .

FAM210A 831 100% .

FAM210B 591 68% .

FAM211A 1599 81% .

FAM211B 964 80% .

FAM212A 872 93% .

FAM212B 918 100% .

FAM213A 388 100% .

FAM213B 1279 72% .

FAM214A 3279 100% .

FAM214B 1645 92% .

FAM21A 4150 69% .

FAM21B 7756 51% .

FAM21C 4083 71% .

FAM22A 2665 58% .

FAM22D 1702 57% .

FAM22F 2299 93% .

FAM22G 2297 98% .

FAM24A 326 100% .

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FAM24B 293 100% .

FAM25A 282 100% .

FAM25B 846 33% .

FAM25C 846 33% .

FAM25G 846 33% .

FAM26D 391 100% .

FAM26E 938 100% .

FAM26F 956 45% .

FAM32A 355 82% .

FAM35A 2536 100% .

FAM36A 373 88% .

FAM3A 729 69% .

FAM3B 740 97% .

FAM3C 720 100% .

FAM3D 711 100% .

FAM40A 2598 92% .

FAM40B 2844 95% .

FAM43A 1276 65% .

FAM43B 994 36% .

FAM45A 1110 95% .

FAM46A 1337 100% .

FAM46B 1286 93% .

FAM46C 1180 100% .

FAM46D 1174 100% .

FAM47A 2380 100% .

FAM47B 1942 100% .

FAM47C 3112 100% .

FAM47E 1327 70% .

FAM47E-STBD1 1911 79% .

FAM48A 2719 100% .

FAM48B1 2668 91% .

FAM48B2 2458 95% .

FAM49A 1012 100% .

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FAM49B 1015 100% .

FAM50A 1072 90% .

FAM50B 982 100% .

FAM53A 1213 77% .

FAM53B 1285 97% .

FAM53C 1195 100% .

FAM54A 1186 100% .

FAM54B 1229 100% .

FAM55A 1234 100% .

FAM55B 1704 100% .

FAM55C 1700 100% .

FAM55D 1721 100% .

FAM57A 794 78% .

FAM57B 845 85% .

FAM58A 859 90% Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations

FAM58BP 763 100% .

FAM59A 3551 99% .

FAM59B 4737 83% .

FAM5B 2380 100% .

FAM5C 2329 100% .

FAM60A 686 100% .

FAM63A 3232 98% .

FAM63B 2035 100% .

FAM64A 798 100% .

FAM65A 4143 95% .

FAM65B 3305 100% .

FAM65C 2925 94% .

FAM69A 1446 99% .

FAM69B 1316 85% .

FAM69C 1276 67% .

FAM70A 1090 96% .

FAM70B 1017 95% .

FAM71A 1789 100% .

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FAM71B 1826 100% .

FAM71C 734 100% .

FAM71D 1293 100% .

FAM71E1 712 93% .

FAM71E2 2809 6% .

FAM71F1 1063 100% .

FAM71F2 1166 100% .

FAM72A 466 96% .

FAM72B 466 100% .

FAM72D 466 79% .

FAM73A 1963 97% .

FAM73B 1842 94% .

FAM75A1 8120 34% .

FAM75A2 8120 34% .

FAM75A3 4060 63% .

FAM75A4 4060 11% .

FAM75A5 12180 12% .

FAM75A6 4048 87% .

FAM75A7 12180 12% .

FAM75C1 3583 95% .

FAM75C2 3421 99% .

FAM75D1 4747 100% .

FAM75D3 2770 25% .

FAM75D4 2770 22% .

FAM76A 1066 82% .

FAM76B 1060 98% .

FAM78A 860 100% .

FAM78B 794 97% .

FAM81A 1139 100% .

FAM81B 1399 100% .

FAM82A1 2280 100% .

FAM82A2 1461 100% .

FAM82B 985 98% .

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FAM83A 1932 92% .

FAM83B 3052 100% .

FAM83C 2260 92% .

FAM83D 1864 84% .

FAM83E 1457 86% .

FAM83F 1523 70% .

FAM83G 2492 99% .

FAM83H 3556 76% Amelogenesis Imperfecta, Type III

FAM84A 883 94% .

FAM84B 937 99% .

FAM86A 1025 99% .

FAM86B1 919 78% .

FAM86B2 1025 52% .

FAM86C1 603 89% .

FAM89A 563 50% .

FAM89B 1174 75% .

FAM8A1 1262 86% .

FAM90A1 1411 100% .

FAM90A10 1411 65% .

FAM90A13 4233 11% .

FAM90A14 4233 11% .

FAM90A18 2822 0% .

FAM90A19 2822 0% .

FAM90A20 1411 92% .

FAM90A5 1411 13% .

FAM90A7 2822 1% .

FAM90A8 1411 6% .

FAM90A9 1411 24% .

FAM91A1 2613 100% .

FAM92A1 902 97% .

FAM92B 947 99% .

FAM96A 553 100% .

FAM96B 512 100% .

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FAM98A 1589 100% .

FAM98B 1698 72% .

FAM98C 1082 70% .

FAM9A 1031 99% .

FAM9B 589 100% .

FAM9C 525 100% .

FAN1 3362 100% .

FANCA 4545 92% FANCA-Related Fanconi Anemia

FANCA 4545 92% Fanconi Anemia

FANCB 2612 100% FANCB-Related Fanconi Anemia

FANCB 2612 100% Fanconi Anemia

FANCB 2612 100% VACTERL with Hydrocephalus, FANCB-Related

FANCC 1733 100% FANCC-Related Fanconi Anemia

FANCC 1733 100% Fanconi Anemia

FANCD2 4898 99% FANCD2-Related Fanconi Anemia

FANCD2 4898 99% Fanconi Anemia

FANCE 1651 85% FANCE-Related Fanconi Anemia

FANCE 1651 85% Fanconi Anemia

FANCF 1129 100% FANCF-Related Fanconi Anemia

FANCF 1129 100% Fanconi Anemia

FANCG 1925 100% FANCG-Related Fanconi Anemia

FANCG 1925 100% Fanconi Anemia

FANCI 4135 100% Fanconi Anemia

FANCI 4135 100% FANCI-Related Fanconi Anemia

FANCL 1287 100% Fanconi Anemia

FANCL 1287 100% FANCL-Related Fanconi Anemia

FANCM 6239 100% Fanconi Anemia

FANCM 6239 100% FANCM-Related Fanconi Anemia

FANK1 1082 99% .

FAP 2387 100% .

FAR1 1592 100% .

FAR2 1592 100% .

FARP1 3465 100% .

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FARP2 3269 100% .

FARS2 1380 100% .

FARSA 1579 92% .

FARSB 1838 100% .

FAS 1380 100% FAS-Related Autoimmune Lymphoproliferative Syndrome

FAS 1380 100% Autoimmune Lymphoproliferative Syndrome

FASLG 862 100% FASLG-Related Autoimmune Lymphoproliferative Syndrome

FASLG 862 100% Autoimmune Lymphoproliferative Syndrome

FASN 7704 82% .

FASTK 1690 94% .

FASTKD1 2600 100% .

FASTKD2 2177 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)

FASTKD3 2013 100% .

FASTKD5 2299 100% .

FAT1 13871 100% .

FAT2 13142 100% .

FAT3 13774 100% .

FAT4 15014 100% .

FATE1 572 81% .

FAU 418 100% .

FBF1 3514 98% .

FBL 1002 98% .

FBLIM1 1803 88% .

FBLN1 2660 91% .

FBLN2 3764 98% .

FBLN5 1391 96% Age-Related Macular Degeneration

FBLN5 1391 96% Age-Related Macular Degeneration 3

FBLN5 1391 96% FBLN5-Related Cutis Laxa

FBLN5 1391 96% Choriodal Dystrophy, Central Areolar 2

FBLN7 1352 91% .

FBN1 8876 100% Marfan Syndrome

FBN1 8876 100% Thoracic Aortic Aneurysms and Aortic Dissections

FBN1 8876 100% Acromicric Dysplasia

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FBN1 8876 100% Ectopia Lentis, Isolated

FBN1 8876 100% MASS Syndrome

FBN1 8876 100% FBN1-Related Weill-Marchesani Syndrome

FBN1 8876 100% FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections

FBN1 8876 100% Stiff Skin Syndrome

FBN1 8876 100% Geleophysic Dysplasia 2

FBN1 8876 100% Geleophysic Dysplasia

FBN1 8876 100% Choriodal Dystrophy, Central Areolar 2

FBN2 8999 100% Congenital Contractural Arachnodactyly

FBN2 8999 100% Choriodal Dystrophy, Central Areolar 2

FBN3 8682 93% .

FBP1 1045 96% Fructose 1,6 Bisphosphatase Deficiency

FBP1 1045 96% Choriodal Dystrophy, Central Areolar 2

FBP2 1048 100% .

FBRS 1427 94% .

FBRSL1 3206 11% .

FBXL12 993 85% .

FBXL13 2280 100% .

FBXL14 1265 98% .

FBXL15 919 62% .

FBXL16 1460 74% .

FBXL17 2142 53% .

FBXL18 2177 94% .

FBXL19 2129 90% .

FBXL2 1511 100% .

FBXL20 1371 100% .

FBXL21 1321 100% .

FBXL22 752 97% .

FBXL3 1303 100% .

FBXL4 1894 100% .

FBXL5 2527 97% .

FBXL6 1724 96% .

FBXL7 1492 100% .

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FBXL8 1133 63% .

FBXO10 2911 100% .

FBXO11 3008 93% .

FBXO15 1682 86% .

FBXO16 911 100% .

FBXO17 1258 48% .

FBXO18 3378 100% .

FBXO2 915 64% .

FBXO21 2151 98% .

FBXO22 1484 91% .

FBXO24 2097 87% .

FBXO25 1252 100% .

FBXO27 872 86% .

FBXO28 1526 92% .

FBXO3 1673 99% .

FBXO30 2246 100% .

FBXO31 1656 79% .

FBXO32 1202 100% .

FBXO33 1684 86% .

FBXO34 2140 100% .

FBXO36 583 100% .

FBXO38 4390 100% .

FBXO39 1341 100% .

FBXO4 1424 86% .

FBXO40 2142 100% .

FBXO41 2676 70% .

FBXO42 2190 100% .

FBXO43 2147 100% .

FBXO44 1131 100% .

FBXO45 873 87% .

FBXO46 1816 96% .

FBXO47 1399 100% .

FBXO48 476 100% .

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FBXO5 2083 95% .

FBXO6 902 100% .

FBXO7 1945 94% .

FBXO8 980 100% .

FBXO9 1686 100% .

FBXW10 3212 100% .

FBXW11 1744 99% .

FBXW12 1472 100% .

FBXW2 1389 100% .

FBXW4 1275 85% Ectrodactyly

FBXW4 1275 85% Split-Hand/Foot Malformation 3

FBXW5 1733 82% .

FBXW7 2584 100% .

FBXW8 2163 70% .

FBXW9 1417 90% .

FCAMR 1931 100% .

FCAR 2263 100% .

FCER1A 794 100% .

FCER1G 281 100% .

FCER2 1006 92% .

FCF1 629 100% .

FCGBP 16362 76% .

FCGR1A 1149 98% .

FCGR1B 863 93% .

FCGR2A 1244 100% .

FCGR2B 1227 83% .

FCGR2C 1000 84% .

FCGR3A 1307 100% .

FCGR3B 766 100% .

FCGRT 1122 92% .

FCHO1 2908 95% .

FCHO2 2537 97% .

FCHSD1 2153 95% .

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FCHSD2 2303 100% .

FCN1 1017 100% .

FCN2 974 99% .

FCN3 932 97% .

FCRL1 1512 100% .

FCRL2 1575 100% .

FCRL3 2261 100% .

FCRL4 1596 100% .

FCRL5 3315 98% .

FCRL6 1345 100% .

FCRLA 1173 100% .

FCRLB 1305 90% .

FDCSP 270 100% .

FDFT1 1286 99% .

FDPS 1552 99% .

FDX1 571 67% .

FDX1L 572 93% .

FDXACB1 1895 100% .

FDXR 1672 95% .

FECH 1483 95% Erythropoietic Protoporphyria

FECH 1483 95% Choriodal Dystrophy, Central Areolar 2

FEM1A 2014 82% .

FEM1B 1892 100% .

FEM1C 1862 100% .

FEN1 1147 100% .

FER 2541 100% .

FER1L5 6490 46% .

FER1L6 5734 100% .

FERD3L 505 100% .

FERMT1 2090 100% Kindler Syndrome

FERMT2 2294 100% .

FERMT3 2201 94% .

FES 2541 92% .

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FETUB 1177 100% .

FEV 729 66% .

FEZ1 1538 100% .

FEZ2 1179 77% .

FEZF1 3054 99% .

FEZF2 1396 94% .

FFAR1 907 58% .

FFAR2 997 100% .

FFAR3 1045 100% .

FGA 4098 99% Congenital Afibrinogenemia

FGA 4098 99% Familial Visceral Amyloidosis

FGA 4098 99% FGA-Related Congenital Afibrinogenemia

FGA 4098 99% FGA-Related Familial Visceral Amyloidosis

FGB 1892 99% Congenital Afibrinogenemia

FGB 1892 99% FGB-Related Congenital Afibrinogenemia

FGD1 2958 77% Aarskog Syndrome

FGD1 2958 77% FGD1-Related X-Linked Mental Retardation

FGD2 2032 93% .

FGD3 2242 100% .

FGD4 2361 100% Charcot-Marie-Tooth Neuropathy Type 4

FGD4 2361 100% Charcot-Marie-Tooth Neuropathy Type 4H

FGD5 4469 92% .

FGD6 4377 100% .

FGF1 878 100% .

FGF10 639 100% Lacrimo-Auriculo-Dento-Digital Syndrome

FGF10 639 100% FGF10-Related Lacrimo-Auriculo-Dento-Digital Syndrome

FGF10 639 100% Aplasia of Lacrimal and Salivary Glands

FGF11 698 86% .

FGF12 769 100% .

FGF13 1187 100% .

FGF14 976 100% Spinocerebellar Ataxia Type27

FGF16 359 100% .

FGF17 671 100% .

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FGF18 644 99% .

FGF19 663 64% .

FGF2 879 64% .

FGF20 648 61% .

FGF21 642 100% .

FGF22 525 58% .

FGF23 768 100% Hypophosphatemic Rickets, Autosomal Dominant

FGF23 768 100% Hyperphosphatemic Familial Tumoral Calcinosis, FGF23-Related

FGF23 768 100% Choriodal Dystrophy, Central Areolar 2

FGF3 732 69% Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia

FGF4 633 52% .

FGF5 1171 100% .

FGF6 639 100% .

FGF7 597 100% .

FGF8 1129 83% Kallmann Syndrome

FGF8 1129 83% Kallmann Syndrome 6

FGF9 639 100% .

FGFBP1 709 100% .

FGFBP2 676 100% .

FGFBP3 781 56% .

FGFR1 3195 99% FGFR1-Related Craniosynostosis

FGFR1 3195 99% FGFR-Related Craniosynostosis

FGFR1 3195 99% Kallmann Syndrome 2

FGFR1 3195 99% Kallmann Syndrome

FGFR1 3195 99% Osteoglophonic Dysplasia

FGFR1 3195 99% Pfeiffer Syndrome Type 1

FGFR1 3195 99% Trigonocephaly, Nonsyndromic

FGFR1 3195 99% Choriodal Dystrophy, Central Areolar 2

FGFR1OP 1252 92% .

FGFR1OP2 922 100% .

FGFR2 2997 98% Crouzon Syndrome

FGFR2 2997 98% Jackson-Weiss Syndrome


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FGFR2 2997 98% Beare-Stevenson Syndrome

FGFR2 2997 98% FGFR2-Related Isolated Coronal Synostosis


FGFR2 2997 98% Lacrimo-Auriculo-Dento-Digital Syndrome

FGFR2 2997 98% Pfeiffer Syndrome Type 1, 2 and 3

FGFR2 2997 98% Apert Syndrome

FGFR2 2997 98% FGFR2-Related Lacrimo-Auriculo-Dento-Digital Syndrome

FGFR2 2997 98% Saethre-Chotzen Syndrome, FGFR2-Related


FGFR3 2644 81% Achondroplasia

FGFR3 2644 81% Hypochondroplasia

FGFR3 2644 81% Crouzon Syndrome with Acanthosis Nigricans

FGFR3 2644 81% Thanatophoric Dysplasia Type I

FGFR3 2644 81% Thanatophoric Dysplasia Type II



FGFR3 2644 81% Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN)

FGFR3 2644 81% Thanatophoric Dysplasia

FGFR3 2644 81% Lacrimo-Auriculo-Dento-Digital Syndrome

FGFR3 2644 81% Muenke Syndrome

FGFR3 2644 81% FGFR3-Related Isolated Coronal Synostosis

FGFR3 2644 81% FGFR3-Related Lacrimo-Auriculo-Dento-Digital Syndrome

FGFR3 2644 81% Camptodactyly, Tall Stature, and Hearing Loss Syndrome


FGFR4 3383 99% .

FGFRL1 1539 86% .

FGG 1654 100% Congenital Afibrinogenemia

FGG 1654 100% FGG-Related Congenital Afibrinogenemia

FGGY 1792 100% .

FGL1 967 100% .

FGL2 1328 100% .

FGR 1634 99% .

FH 1573 91% Fumarate Hydratase Deficiency

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FH 1573 91% Hereditary Leiomyomatosis and Renal Cell Cancer

FH 1573 91% Multiple Cutaneous and Uterine Leiomyomas

FH 1573 91% Choriodal Dystrophy, Central Areolar 2

FHAD1 4359 98% .

FHDC1 3476 99% .

FHIT 464 100% .

FHL1 1529 96% Emery-Dreifuss Muscular Dystrophy

FHL1 1529 96% Myofibrillar Myopathy

FHL1 1529 96% FHL1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

FHL1 1529 96% Myopathy with Postural Muscle Atrophy, X-Linked

FHL1 1529 96% Scapuloperoneal Myopathy, X-Linked Dominant

FHL1 1529 96% Early-Onset Severe Reducing Body Myopathy, X-Linked

FHL1 1529 96% Childhood-Onset Reducing Body Myopathy, X-Linked

FHL1 1529 96% FHL1-Related Myofibrillar Myopathy

FHL2 860 100% .

FHL3 1042 100% .

FHL5 875 100% .

FHOD1 3583 99% .

FHOD3 4420 97% .

FIBCD1 1414 72% .

FIBIN 640 100% .

FIBP 1294 93% .

FICD 1385 100% .

FIG4 2816 98% Charcot-Marie-Tooth Neuropathy Type 4

FIG4 2816 98% Amyotrophic Lateral Sclerosis

FIG4 2816 98% Charcot-Marie-Tooth Neuropathy Type 4J

FIG4 2816 98% FIG4-Related Amyotrophic Lateral Sclerosis

FIGF 1093 100% .

FIGLA 680 66% .

FIGN 2288 100% .

FIGNL1 2029 100% .

FIGNL2 1966 41% .

FILIP1 3662 100% .

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FILIP1L 9051 100% .

FIP1L1 1888 96% .

FIS1 479 100% .

FITM1 887 99% .

FITM2 797 96% .

FIZ1 1499 56% .

FJX1 1318 51% .

FKBP10 1789 95% FKBP10-Related Osteogenesis Imperfecta

FKBP11 725 89% .

FKBP14 652 100% .

FKBP15 3772 100% .

FKBP1A 476 80% .

FKBP1B 566 93% .

FKBP2 449 100% .

FKBP3 703 100% .

FKBP4 1420 99% .

FKBP5 1618 100% .

FKBP6 1062 100% .

FKBP7 823 100% .

FKBP8 1274 98% .

FKBP9 1753 95% .

FKBPL 1054 100% .

FKRP 1492 48% Limb-Girdle Muscular Dystrophies, Autosomal Recessive

FKRP 1492 48% Congenital Muscular Dystrophy

FKRP 1492 48% FKRP-Related Muscle Diseases

FKRP 1492 48% FKRP-Related Walker-Warburg Syndrome

FKRP 1492 48% Choriodal Dystrophy, Central Areolar 2

FKTN 1667 98% Fukuyama Congenital Muscular Dystrophy

FKTN 1667 98% Dilated Cardiomyopathy

FKTN 1667 98% Congenital Muscular Dystrophy

FKTN 1667 98% FKTN-Related Muscle Diseases

FKTN 1667 98% FKTN-Related Dilated Cardiomyopathy

FLAD1 3283 100% .

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FLCN 2196 100% Spontaneous Pneumothorax

FLCN 2196 100% Birt-Hogg-Dube Syndrome

FLG 12194 99% Ichthyosis Vulgaris

FLG2 7184 100% .

FLI1 1611 100% .

FLII 4071 96% .

FLJ22184 4060 6% .

FLJ23152 851 0% .

FLJ25363 308 4% .

FLJ27352 374 29% .

FLJ43860 4077 83% .

FLJ44635 431 100% .

FLNA 8132 99% Otopalatodigital Syndrome, Type I

FLNA 8132 99% Periventricular Heterotopia, X-Linked

FLNA 8132 99% FLNA-Related Disorders

FLNA 8132 99% Otopalatodigital Syndrome, Type II

FLNA 8132 99% Otopalatodigital Spectrum Disorders

FLNA 8132 99% FLNA-Related X-linked Cardiac Valvular Dysplasia

FLNA 8132 99% Periventricular Heterotopia, Ehlers-Danlos Variant

FLNA 8132 99% FG Syndrome 2

FLNA 8132 99% Chronic Idiopathic Neuronal Intestinal Pseudoobstruction, X-Linked

FLNA 8132 99% Choriodal Dystrophy, Central Areolar 2

FLNB 8166 99% Atelosteogenesis Type I

FLNB 8166 99% Atelosteogenesis Type III

FLNB 8166 99% Larsen Syndrome

FLNB 8166 99% Spondylocarpotarsal Synostosis Syndrome

FLNB 8166 99% Boomerang Dysplasia

FLNB 8166 99% FLNB-Related Disorders

FLNC 8370 98% Myofibrillar Myopathy

FLNC 8370 98% Filaminopathy

FLNC 8370 98% Distal Myopathy 4

FLOT1 1332 100% .

FLOT2 1331 99% .

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FLRT1 2029 100% .

FLRT2 1987 100% .

FLRT3 1954 100% .

FLT1 4809 96% .

FLT3 3078 98% .

FLT3LG 736 91% .

FLT4 4220 97% Milroy Disease

FLT4 4220 97% Choriodal Dystrophy, Central Areolar 2

FLVCR1 1708 88% .

FLVCR2 1679 97% Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome

FLYWCH1 2253 92% .

FLYWCH2 431 100% .

FMN1 3659 98% .

FMN2 5241 91% .

FMNL1 3407 80% .

FMNL2 3383 100% .

FMNL3 3188 97% .

FMO1 1631 100% .

FMO2 1448 100% .

FMO3 1631 100% Trimethylaminuria

FMO3 1631 100% Choriodal Dystrophy, Central Areolar 2

FMO4 1709 100% .

FMO5 1854 92% .

FMOD 1139 100% .

FMR1 2320 98% FMR1-Related Disorders

FMR1 2320 98% Fragile X-Associated Tremor/Ataxia Syndrome

FMR1 2320 98% Fragile X Syndrome

FMR1 2320 98% Choriodal Dystrophy, Central Areolar 2

FMR1NB 788 100% .

FN1 9223 100% .

FN3K 954 85% .

FN3KRP 954 99% .

FNBP1 1922 98% .

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FNBP1L 2089 99% .

FNBP4 3122 93% .

FNDC1 5777 95% .

FNDC3A 3708 100% .

FNDC3B 3715 100% .

FNDC4 729 100% .

FNDC5 887 100% .

FNDC7 2250 96% .

FNDC8 991 100% .

FNDC9 679 100% .

FNIP1 3573 99% .

FNIP2 3413 97% .

FNTA 1176 86% .

FNTB 1362 100% .

FOLH1 2509 97% .

FOLH1B 1377 100% .

FOLR1 790 100% Neurodegeneration due to Cerebral Folate Transport Deficiency

FOLR2 784 100% .

FOLR3 752 100% .

FOLR4 769 100% .

FOPNL 545 100% .

FOS 1159 100% .

FOSB 1033 92% .

FOSL1 832 87% .

FOSL2 997 96% .

FOXA1 1427 87% .

FOXA2 1491 93% .

FOXA3 1061 93% .

FOXB1 982 96% .

FOXB2 1303 83% .

FOXC1 1666 62% Axenfeld-Rieger Syndrome

FOXC1 1666 62% Peters Anomaly

FOXC1 1666 62% Iridogoniodysgenesis, Type 1

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FOXC1 1666 62% Choriodal Dystrophy, Central Areolar 2

FOXC2 1510 73% Lymphedema-Distichiasis Syndrome

FOXC2 1510 73% Choriodal Dystrophy, Central Areolar 2

FOXD1 1400 37% .

FOXD2 1492 43% .

FOXD3 1441 56% .

FOXD4 1324 100% .

FOXD4L1 1231 98% .

FOXD4L2 2510 0% .

FOXD4L3 1258 85% .

FOXD4L4 2510 0% .

FOXD4L5 1255 86% .

FOXD4L6 1258 61% .

FOXE1 1126 65% Cleft Lip +/- Cleft Palate

FOXE1 1126 65% Bamforth-Lazarus Syndrome

FOXE1 1126 65% Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate

FOXE1 1126 65% Choriodal Dystrophy, Central Areolar 2

FOXE3 964 49% Cataracts, Autosomal Dominant

FOXE3 964 49% Peters Anomaly with Cataract

FOXE3 964 49% Anterior Segment Mesenchymal Dysgenesis

FOXE3 964 49% Congenital Primary Aphakia

FOXE3 964 49% FOXE3-Related Anterior Segment Mesenchymal Dysgenesis

FOXE3 964 49% FOXE3-Related Cataracts, Autosomal Dominant

FOXF1 1148 90% Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

FOXF2 1343 71% .

FOXG1 1474 81% Rett Syndrome, Congenital Variant

FOXH1 1110 83% Holoprosencephaly

FOXH1 1110 83% FOXH1-Related Holoprosencephaly

FOXI1 1712 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

FOXI1 1712 100% FOXI1-Related Pendred Syndrome

FOXI1 1712 100% Pendred Syndrome/DFNB4

FOXI2 965 73% .

FOXI3 1270 59% .

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FOXJ1 1274 74% .

FOXJ2 1765 100% .

FOXJ3 1917 100% .

FOXK1 2238 79% .

FOXK2 2019 93% .

FOXL1 1042 81% .

FOXL2 1135 74% Blepharophimosis, Ptosis, and Epicanthus Inversus

FOXL2 1135 74% Choriodal Dystrophy, Central Areolar 2

FOXM1 2672 100% .

FOXN1 1979 100% Alopecia and T-Cell Immunodeficiency

FOXN2 1316 100% .

FOXN3 1497 100% .

FOXN4 1590 78% .

FOXO1 1976 78% .

FOXO3 2030 90% .

FOXO4 2444 94% .

FOXP1 2493 100% Mental Retardation with Language Impairment and Autistic Features

FOXP2 2682 100% Speech-Language Disorder 1

FOXP3 1340 64% IPEX Syndrome

FOXP4 2628 91% .

FOXQ1 1216 50% .

FOXR1 903 93% .

FOXR2 940 100% .

FOXRED1 1505 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)

FOXRED2 2087 96% .

FOXS1 997 100% .

FPGS 1957 85% .

FPGT 6139 100% .

FPGT-TNNI3K 3031 100% .

FPR1 1057 100% .

FPR2 1060 100% .

FPR3 1066 100% .

FRA10AC1 1000 100% .

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FRAS1 12680 100% FRAS1-Related Fraser Syndrome

FRAT1 844 33% .

FRAT2 706 31% .

FREM1 7203 100% Manitoba Oculotrichoanal Syndrome

FREM2 9606 99% FREM2-Related Fraser Syndrome

FREM3 6452 96% .

FRG1 813 100% .

FRG2 853 10% .

FRG2B 853 95% .

FRG2C 865 0% .

FRK 1550 100% .

FRMD1 1707 90% .

FRMD3 2453 100% .

FRMD4A 3212 92% .

FRMD4B 3197 100% .

FRMD5 1769 95% .

FRMD6 1897 100% .

FRMD7 2193 100% FRMD7-Related Infantile Nystagmus

FRMD8 1435 79% .

FRMPD1 4797 100% .

FRMPD2 4136 98% .

FRMPD4 4037 99% .

FRRS1 1941 100% .

FRS2 1547 100% .

FRS3 1499 92% .

FRY 9286 100% .

FRYL 9286 100% .

FRZB 1002 99% .

FSCB 2482 98% .

FSCN1 1502 96% .

FSCN2 1815 81% Retinitis Pigmentosa, Autosomal Dominant

FSCN2 1815 81% Retinitis Pigmentosa

FSCN2 1815 81% FSCN2-Related Retinitis Pigmentosa

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FSCN3 1521 100% .

FSD1 1543 99% .

FSD1L 1941 99% .

FSD2 2298 99% .

FSHB 398 100% Isolated Follicle Stimulating Hormone Deficiency

FSHB 398 100% Isolated Follicle-Stimulating Hormone Deficiency

FSHB 398 100% Choriodal Dystrophy, Central Areolar 2

FSHR 2128 100% Ovarian Dysgenesis 1

FSHR 2128 100% Ovarian Hyperstimulation Syndrome

FSIP1 1790 100% .

FSIP2 21083 98% .

FST 1065 92% .

FSTL1 967 98% .

FSTL3 812 57% .

FSTL4 2589 99% .

FSTL5 2642 100% .

FTCD 1682 67% Formiminotransferase Deficiency

FTH1 568 100% .

FTHL17 556 100% .

FTL 544 100% Hyperferritinemia Cataract Syndrome

FTL 544 100% Neuroferritinopathy

FTL 544 100% Choriodal Dystrophy, Central Areolar 2

FTMT 733 100% .

FTO 1554 97% Growth Retardation, Developmental Delay, Coarse Facies, and Early Death

FTSJ1 1142 96% X-Linked Mental Retardation 9

FTSJ2 753 99% .

FTSJ3 2624 100% .

FTSJD1 2317 100% .

FTSJD2 2600 100% .

FUBP1 2015 100% .

FUBP3 1795 96% .

FUCA1 1433 91% Fucosidosis

FUCA1 1433 91% Choriodal Dystrophy, Central Areolar 2

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Feb 2013

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FUCA2 1432 98% .

FUK 3347 81% .

FUNDC1 488 93% .

FUNDC2 590 96% .

FURIN 2445 90% .

FUS 1982 99% Amyotrophic Lateral Sclerosis

FUS 1982 99% FUS-Related Amyotrophic Lateral Sclerosis

FUT1 1102 100% .

FUT10 1456 100% .

FUT11 1491 91% .

FUT2 1036 100% .

FUT3 1090 100% .

FUT4 1597 79% .

FUT5 1129 100% .

FUT6 1084 100% .

FUT7 1037 70% .

FUT8 1883 100% .

FUT9 1084 100% .

FUZ 1427 68% .

FXC1 324 100% .

FXN 964 79% Friedreich Ataxia

FXN 964 79% Choriodal Dystrophy, Central Areolar 2

FXR1 2185 100% .

FXR2 2090 98% .

FXYD1 303 100% .

FXYD2 956 38% Hypomagnesemia 2, Renal

FXYD3 1407 93% .

FXYD4 298 100% .

FXYD5 569 100% .

FXYD6 312 83% Schizophrenia

FXYD6-FXYD2 1257 51% .

FXYD7 267 87% .

FYB 3701 100% .

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FYCO1 4505 100% Cataract, Autosomal Recessive Congenital 2

FYN 1818 100% .

FYTTD1 1022 100% .

FZD1 1948 92% .

FZD10 1750 100% .

FZD2 1702 100% .

FZD3 2025 100% .

FZD4 1622 100% Familial Exudative Vitreoretinopathy, Autosomal Dominant

FZD4 1622 100% Familial Exudative Vitreoretinopathy

FZD4 1622 100% FZD4-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant

FZD5 1762 98% .

FZD6 2326 100% .

FZD7 1729 100% .

FZD8 2089 81% .

FZD9 1780 91% .

FZR1 1649 84% .

G0S2 316 82% .

G2E3 2177 100% .

G3BP1 1445 100% .

G3BP2 1493 100% .

G6PC 1094 100% Glycogen Storage Disease Type Ia

G6PC 1094 100% Glycogen Storage Disease Type I

G6PC 1094 100% Choriodal Dystrophy, Central Areolar 2

G6PC2 1604 100% .

G6PC3 1065 97% Severe Congenital Neutropenia, Autosomal Recessive, 4

G6PD 1822 95% Glucose-6-Phosphate Dehydrogenase Deficiency

G6PD 1822 95% Choriodal Dystrophy, Central Areolar 2

GAA 2935 97% Glycogen Storage Disease Type II (Pompe Disease)

GAA 2935 97% Choriodal Dystrophy, Central Areolar 2

GAB1 2219 98% .

GAB2 2376 100% .

GAB3 2028 96% .

GAB4 1765 99% .

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Feb 2013

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GABARAP 370 100% .

GABARAPL1 370 89% .

GABARAPL2 370 100% .

GABBR1 3429 87% .

GABBR2 2902 92% .

GABPA 1401 100% .

GABPB1 1588 100% .

GABPB2 1379 100% .

GABRA1 1407 100% Juvenile Myoclonic Epilepsy

GABRA1 1407 100% GABRA1-Related Juvenile Myoclonic Epilepsy

GABRA2 1392 100% .

GABRA3 1515 100% .

GABRA4 1791 100% .

GABRA5 1425 100% .

GABRA6 1398 100% .

GABRB1 1461 100% .

GABRB2 1579 100% .

GABRB3 1798 93% Epilepsy, Childhood Absence, Susceptibility to, 5

GABRD 1395 87% Juvenile Myoclonic Epilepsy

GABRD 1395 87% GABRD-Related Generalized Epilepsy with Febrile Seizures Plus

GABRD 1395 87% GABRD-Related Juvenile Myoclonic Epilepsy

GABRE 1557 97% .

GABRG1 1434 100% .

GABRG2 1592 92% GABRG2-Related Generalized Epilepsy with Febrile Seizures Plus

GABRG2 1592 92% Epilepsy, Childhood Absence, Susceptibility to, 2

GABRG2 1592 92% GABRG2-Related Dravet Syndrome

GABRG3 1444 96% .

GABRP 1359 100% .

GABRQ 1935 100% .

GABRR1 1480 100% .

GABRR2 1509 100% .

GABRR3 1440 100% .

GAD1 1890 100% .

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GAD2 1822 100% .

GADD45A 632 100% .

GADD45B 499 100% .

GADD45G 496 85% .

GADD45GIP1 677 85% .

GADL1 1626 99% .

GAGE1 463 53% .

GAGE10 367 100% .

GAGE12B 1113 8% .

GAGE12C 2223 12% .

GAGE12D 2223 12% .

GAGE12E 2223 12% .

GAGE12F 1110 28% .

GAGE12G 1853 11% .

GAGE12H 1483 10% .

GAGE12I 1110 21% .

GAGE12J 370 24% .

GAGE13 370 42% .

GAGE2A 1471 36% .

GAGE2B 367 44% .

GAGE2C 1471 45% .

GAGE2D 1104 45% .

GAGE2E 1477 41% .

GAGE4 370 31% .

GAGE5 370 31% .

GAGE6 740 16% .

GAGE7 370 31% .

GAGE8 1477 41% .

GAK 4048 96% .

GAL 392 95% .

GAL3ST1 1280 100% .

GAL3ST2 1213 74% .

GAL3ST3 1304 68% .

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GAL3ST4 1473 93% .

GALC 2189 94% Krabbe Disease

GALC 2189 94% Choriodal Dystrophy, Central Areolar 2

GALE 1087 99% Epimerase Deficiency Galactosemia

GALE 1087 99% Choriodal Dystrophy, Central Areolar 2

GALK1 1211 82% Galactokinase Deficiency

GALK1 1211 82% Choriodal Dystrophy, Central Areolar 2

GALK2 1441 98% .

GALM 1057 100% .

GALNS 1625 78% Mucopolysaccharidosis Type IVA

GALNS 1625 78% Choriodal Dystrophy, Central Areolar 2

GALNT1 1724 100% .

GALNT10 1860 91% .

GALNT11 1871 100% .

GALNT12 1786 78% .

GALNT13 1715 100% .

GALNT14 1719 100% .

GALNT2 1780 93% .

GALNT3 1942 100% Hyperphosphatemic Familial Tumoral Calcinosis, GALNT3-Related

GALNT4 1741 100% .

GALNT5 2863 100% .

GALNT6 1909 100% .

GALNT7 2022 100% .

GALNT8 1958 100% .

GALNT9 2046 77% .

GALNTL1 1737 99% .

GALNTL2 1960 100% .

GALNTL4 1868 99% .

GALNTL5 1364 100% .

GALNTL6 1854 100% .

GALP 456 100% .

GALR1 1062 96% .

GALR2 1172 88% .

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GALR3 1115 65% .

GALT 1184 100% Galactosemia

GALT 1184 100% Choriodal Dystrophy, Central Areolar 2

GAMT 1330 68% Guanidinoacetate Methyltransferase Deficiency

GAMT 1330 68% Creatine Deficiency Syndromes

GAMT 1330 68% Choriodal Dystrophy, Central Areolar 2

GAN 1838 97% Giant Axonal Neuropathy

GAN 1838 97% Choriodal Dystrophy, Central Areolar 2

GANAB 3001 100% .

GANC 2841 100% .

GAP43 871 100% .

GAPDH 1040 100% .

GAPDHS 1271 100% .

GAPT 478 100% .

GAPVD1 4568 100% .

GAR1 678 100% .

GARNL3 3154 100% .

GARS 2288 95% Charcot-Marie-Tooth Neuropathy Type 2

GARS 2288 95% GARS-Associated Axonal Neuropathy

GARS 2288 95% Charcot-Marie-Tooth Neuropathy Type 2D

GARS 2288 95% Distal Spinal Muscular Atrophy V

GART 3361 100% .

GAS1 1042 42% .

GAS2 970 100% .

GAS2L1 2249 88% .

GAS2L2 2667 100% .

GAS2L3 2117 100% .

GAS6 2346 80% .

GAS7 1779 100% .

GAS8 1481 96% .

GAST 314 100% .

GATA1 1262 92% GATA1-Related Cytopenia

GATA2 1593 83% Acute Myeloid Leukemia, Susceptibility, GATA2-Related

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GATA2 1593 83% Myelodysplastic Syndrome, Susceptibility, GATA2-Related

GATA2 1593 83% Lymphedema, Primary, with Myelodysplasia

GATA3 1505 88% Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

GATA4 1353 61% Isolated Nonsyndromic Congenital Heart Disease/Defects

GATA5 1218 46% .

GATA6 1812 63% Pancreatic Agenesis and Congenital Heart Defects

GATAD1 830 70% .

GATAD2A 1946 100% .

GATAD2B 1822 100% .

GATC 427 100% .

GATM 1308 94% L-Arginine:Glycine Amidinotransferase Deficiency

GATM 1308 94% Creatine Deficiency Syndromes

GATS 508 100% .

GATSL1 1026 0% .

GATSL2 1026 7% .

GATSL3 1026 84% .

GBA 1851 100% Gaucher Disease

GBA 1851 100% Choriodal Dystrophy, Central Areolar 2

GBA2 2852 100% .

GBA3 1430 100% .

GBAS 901 89% .

GBE1 2173 100% Glycogen Storage Disease Type IV

GBE1 2173 100% Adult Polyglucosan Body Disease

GBE1 2173 100% GBE1-Related Disorders

GBE1 2173 100% Choriodal Dystrophy, Central Areolar 2

GBF1 6122 100% .

GBGT1 1068 98% .

GBP1 1819 100% .

GBP2 1816 100% .

GBP3 1828 100% .

GBP4 1967 100% .

GBP5 1801 100% .

GBP6 1942 100% .

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GBP7 1957 100% .

GBX1 1100 75% .

GBX2 1055 96% .

GC 1535 100% .

GCA 686 100% .

GCAT 1587 88% .

GCC1 2336 100% .

GCC2 5147 100% .

GCDH 1409 100% Glutaricacidemia Type 1

GCDH 1409 100% Choriodal Dystrophy, Central Areolar 2

GCET2 646 100% .

GCFC1 2944 94% .

GCFC2 2872 95% .

GCG 563 100% .

GCGR 1486 2% .

GCH1 877 89% GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

GCH1 877 89% GTP Cyclohydrolase 1 Deficiency (GTPCH)

GCH1 877 89% Dopa-Responsive Dystonia

GCH1 877 89% GTP Cyclohydrolase 1-Related Disorders

GCH1 877 89% Choriodal Dystrophy, Central Areolar 2

GCHFR 267 85% .

GCK 1536 99% Maturity-Onset Diabetes of the Young Type 2

GCK 1536 99% Familial Hyperinsulinism

GCK 1536 99% GCK-Related Hyperinsulinism

GCK 1536 99% Permanent Neonatal Diabetes Mellitus

GCK 1536 99% GCK-Related Permanent Neonatal Diabetes Mellitus

GCK 1536 99% Choriodal Dystrophy, Central Areolar 2

GCKR 1954 100% .

GCLC 1978 100% .

GCLM 853 85% .

GCM1 1331 100% .

GCM2 1541 100% GCM2-Related Familial Isolated Hypoparathyroidism

GCM2 1541 100% Familial Isolated Hypoparathyroidism

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GCN1L1 8248 99% .

GCNT1 1291 100% .

GCNT2 3073 100% Adult i Blood Group with or without Congenital Cataract

GCNT3 1321 100% .

GCNT4 1366 100% .

GCNT7 1305 99% .

GCOM1 1857 96% .

GCSH 542 72% Glycine Encephalopathy

GCSH 542 72% GCSH-Related Glycine Encephalopathy

GCSH 542 72% Choriodal Dystrophy, Central Areolar 2

GDA 1672 100% .

GDAP1 1298 100% Charcot-Marie-Tooth Neuropathy Type 4

GDAP1 1298 100% Charcot-Marie-Tooth Neuropathy Type 2

GDAP1 1298 100% Charcot-Marie-Tooth Neuropathy Type 4A

GDAP1 1298 100% Charcot-Marie-Tooth Neuropathy Type 2H/2K

GDAP1 1298 100% GDAP1-Related Intermediate Charcot-Marie-Tooth Neuropathy

GDAP1 1298 100% Autosomal Recessive Axonal Charcot-Marie-Tooth Disease with Vocal Cord Paresis

GDAP1 1298 100% Choriodal Dystrophy, Central Areolar 2

GDAP1L1 1128 90% .

GDAP2 1784 100% .

GDE1 1020 96% .

GDF1 1127 9% Isolated Nonsyndromic Congenital Heart Disease/Defects

GDF10 1449 93% .

GDF11 1236 89% .

GDF15 935 98% .

GDF2 1298 100% .

GDF3 1103 100% .

GDF5 1514 100% Acromesomelic Dysplasia, Hunter-Thompson Type

GDF5 1514 100% Brachydactyly Type A2

GDF5 1514 100% Brachydactyly Type C

GDF5 1514 100% Chondrodysplasia, Grebe Type

GDF5 1514 100% Fibular Hypoplasia and Complex Brachydactyly

GDF5 1514 100% Choriodal Dystrophy, Central Areolar 2

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GDF5 1514 100% Multiple Synostoses Syndrome 2

GDF6 1376 88% Klippel-Feil Syndrome

GDF7 1361 59% .

GDF9 1373 100% .

GDI1 1388 100% X-Linked Mental Retardation 41

GDI2 1382 97% .

GDNF 1242 100% Hirschsprung Disease

GDNF 1242 100% GDNF-Related Hirschsprung Disease

GDNF 1242 100% Choriodal Dystrophy, Central Areolar 2

GDPD1 1333 100% .

GDPD2 1935 88% .

GDPD3 997 100% .

GDPD4 1623 100% .

GDPD5 1878 93% .

GEM 907 100% .

GEMIN2 927 100% .

GEMIN4 3185 100% .

GEMIN5 4763 99% .

GEMIN6 512 100% .

GEMIN7 400 100% .

GEMIN8 741 100% .

GEN1 2779 100% .

GET4 1020 85% .

GFAP 1512 93% Alexander Disease

GFAP 1512 93% Choriodal Dystrophy, Central Areolar 2

GFER 630 59% Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay

GFI1 1293 82% Severe Congenital Neutropenia, Autosomal Dominant, 2

GFI1B 1017 100% .

GFM1 2328 97% Combined Oxidative Phosphorylation Deficiency

GFM1 2328 97% Combined Oxidative Phosphorylation Deficiency 1

GFM2 2678 100% .

GFOD1 2105 100% .

GFOD2 1429 100% .

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GFPT1 2122 99% Congenital Myasthenic Syndromes

GFPT1 2122 99% Myasthenia, Limb-Girdle, with Tubular Aggregates

GFPT1 2122 99% GFPT1-Related Congenital Myasthenic Syndrome

GFPT2 2125 98% .

GFRA1 1438 96% .

GFRA2 1431 66% .

GFRA3 1235 96% .

GFRA4 2148 9% .

GFRAL 1221 100% .

GGA1 2480 94% .

GGA2 1910 95% .

GGA3 2559 89% .

GGCT 731 100% .

GGCX 2337 98% Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

GGH 993 96% .

GGN 1967 79% .

GGNBP2 2146 96% .

GGPS1 915 100% .

GGT1 1758 100% .

GGT5 1986 83% .

GGT6 1498 76% .

GGT7 2049 92% .

GGTLC1 698 100% .

GGTLC2 677 100% .

GH1 1000 100% Isolated Growth Hormone Deficiency, Type IA

GH1 1000 100% Isolated Growth Hormone Deficiency, Type II

GH1 1000 100% Choriodal Dystrophy, Central Areolar 2

GH2 3967 100% .

GHDC 2525 86% .

GHITM 1070 100% .

GHR 3077 100% Pituitary Dwarfism II

GHR 3077 100% Choriodal Dystrophy, Central Areolar 2

GHRH 366 92% .

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GHRHR 1324 84% Isolated Growth Hormone Deficiency, Type IB

GHRL 567 97% .

GHSR 2057 100% Partial Isolated Growth Hormone Deficiency

GIF 1290 100% Intrinsic Factor Deficiency

GIGYF1 3204 96% .

GIGYF2 4493 96% .

GIMAP1 929 86% .

GIMAP1-GIMAP5 2075 84% .

GIMAP2 1022 100% .

GIMAP4 998 100% .

GIMAP5 938 100% .

GIMAP6 2483 100% .

GIMAP7 907 100% .

GIMAP8 2014 100% .

GIN1 1597 100% .

GINS1 619 100% .

GINS2 578 89% .

GINS3 784 85% .

GINS4 700 100% .

GIP 482 97% .

GIPC1 1216 90% .

GIPC2 972 95% .

GIPC3 963 75% .

GIPR 1453 87% .

GIT1 2397 97% .

GIT2 2552 98% .

GJA1 1153 100% Oculodentodigital Dysplasia

GJA1 1153 100% Syndactyly, Type III

GJA1 1153 100% Hypoplastic Left Heart Syndrome

GJA10 1636 100% .

GJA3 1312 74% Zonular Pulverulent Cataract 3

GJA4 1006 100% .

GJA5 1081 100% Familial Atrial Fibrillation

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GJA8 1306 100% Zonular Pulverulent Cataract 1

GJA8 1306 100% Cataract-Microcornea Syndrome

GJA8 1306 100% Choriodal Dystrophy, Central Areolar 2

GJA9 1552 100% .

GJB1 856 94% Charcot-Marie-Tooth Neuropathy X Type 1

GJB1 856 94% Charcot-Marie-Tooth Neuropathy X

GJB1 856 94% Choriodal Dystrophy, Central Areolar 2

GJB2 685 100% Vohwinkel Syndrome

GJB2 685 100% Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

GJB2 685 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

GJB2 685 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

GJB2 685 100% GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness

GJB2 685 100% GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness

GJB2 685 100% DFNA 3 Nonsyndromic Hearing Loss and Deafness

GJB2 685 100% DFNB 1 Nonsyndromic Hearing Loss and Deafness

GJB2 685 100% Ichthyosis, Hystrix-like, with Deafness


GJB3 817 100% GJB3-Related Erythrokeratodermia Variabilis


GJB3 817 100% DFNA 2B Nonsyndromic Hearing Loss and Deafness


GJB4 805 100% GJB4-Related Erythrokeratodermia Variabilis


GJB5 826 100% .


GJB6 790 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

GJB6 790 100% Hidrotic Ectodermal Dysplasia 2

GJB6 790 100% DFNA 3 Nonsyndromic Hearing Loss and Deafness

GJB6 790 100% GJB6-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness

GJB6 790 100% DFNB 1 Nonsyndromic Hearing Loss and Deafness

GJB6 790 100% GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness


GJB7 676 100% .

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GJC1 1195 100% .

GJC2 1324 70% GJC2-Related Disorders

GJC2 1324 70% Spastic Paraplegia 44

GJC2 1324 70% Pelizaeus-Merzbacher-Like Disease 1

GJC2 1324 70% Hereditary Lymphedema IC

GJC3 848 100% .

GJD2 974 100% .

GJD3 889 32% .

GJD4 1121 71% .

GK 1764 100% Glycerol Kinase Deficiency

GK 1764 100% Choriodal Dystrophy, Central Areolar 2

GK2 1666 100% .

GK5 1654 97% .

GKAP1 1145 100% .

GKN1 624 100% .

GKN2 579 100% .

GLA 1318 100% Fabry Disease

GLA 1318 100% Choriodal Dystrophy, Central Areolar 2

GLB1 2272 100% Mucopolysaccharidosis Type IVB

GLB1 2272 100% GM1 Gangliosidosis

GLB1 2272 100% Choriodal Dystrophy, Central Areolar 2

GLB1L 2029 100% .

GLB1L2 1987 96% .

GLB1L3 2042 99% .

GLCCI1 1676 76% .

GLCE 1866 100% .

GLDC 3163 96% Glycine Encephalopathy

GLDC 3163 96% GLDC-Related Glycine Encephalopathy

GLDC 3163 96% Choriodal Dystrophy, Central Areolar 2

GLDN 1696 92% .

GLE1 2280 100% Lethal Arthrogryposis With Anterior Horn Cell Disease

GLE1 2280 100% Lethal Congenital Contracture Syndrome 1

GLG1 3896 99% .

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GLI1 3765 100% .

GLI2 4813 91% Holoprosencephaly

GLI2 4813 91% GLI2-Related Holoprosencephaly

GLI3 4799 100% Pallister-Hall Syndrome

GLI3 4799 100% Greig Cephalopolysyndactyly Syndrome

GLI3 4799 100% GLI3-Related Disorders

GLI3 4799 100% Postaxial Polydactyly Type A

GLI3 4799 100% Preaxial Polydactyly Type IV

GLI3 4799 100% Choriodal Dystrophy, Central Areolar 2

GLI4 1143 80% .

GLIPR1 825 100% .

GLIPR1L1 722 100% .

GLIPR1L2 778 100% .

GLIPR2 485 96% .

GLIS1 1895 86% .

GLIS2 1599 77% Nephronophthisis 7

GLIS3 3045 99% Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

GLMN 1857 100% Glomuvenous Malformation

GLO1 579 98% .

GLOD4 933 100% .

GLOD5 499 87% .

GLP1R 1444 89% .

GLP2R 1714 100% .

GLRA1 1729 100% Hyperekplexia

GLRA1 1729 100% GLRA1-Related Hyperekplexia

GLRA1 1729 100% Choriodal Dystrophy, Central Areolar 2

GLRA2 1539 100% .

GLRA3 1435 100% .

GLRA4 2030 96% .

GLRB 1831 100% Hyperekplexia

GLRB 1831 100% GLRB-Related Hyperekplexia

GLRX 329 100% .

GLRX2 705 90% .

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GLRX3 1052 91% .

GLRX5 482 39% Congenital Sideroblastic Anemia

GLRX5 482 39% Pyridoxine-Refractory Sideroblastic Anemia, Autosomal Recessive

GLS 2082 82% .

GLS2 1881 98% .

GLT1D1 833 92% .

GLT25D1 1917 77% .

GLT25D2 1929 95% .

GLT6D1 847 100% .

GLT8D1 1152 100% .

GLT8D2 1086 100% .

GLTP 650 100% .

GLTPD1 653 100% .

GLTPD2 892 58% .

GLTSCR1 4735 63% .

GLTSCR2 1489 67% .

GLUD1 1729 100% Familial Hyperinsulinism

GLUD1 1729 100% GLUD1-Related Hyperinsulinism

GLUD1 1729 100% Choriodal Dystrophy, Central Areolar 2

GLUD2 1681 100% .

GLUL 1146 100% .

GLYAT 1095 100% .

GLYATL1 1030 97% .

GLYATL2 905 100% .

GLYATL3 887 76% .

GLYCTK 2459 100% .

GLYR1 1726 100% .

GM2A 938 95% GM2 Activator Deficiency

GM2A 938 95% Choriodal Dystrophy, Central Areolar 2

GMCL1 1604 92% .

GMDS 1163 92% .

GMEB1 1875 100% .

GMEB2 1629 89% .

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GMFB 457 100% .

GMFG 457 100% .

GMIP 2997 95% .

GML 489 100% .

GMNC 1025 100% .

GMNN 654 100% .

GMPPA 1311 98% .

GMPPB 1996 100% .

GMPR 1074 92% .

GMPR2 1282 100% .

GMPS 2146 99% .

GNA11 1108 100% .

GNA12 1162 90% .

GNA13 1150 100% .

GNA14 1096 100% .

GNA15 1153 85% .

GNAI1 1144 98% .

GNAI2 1111 99% .

GNAI3 1097 100% .

GNAL 1574 81% .

GNAO1 1447 100% .

GNAQ 1108 99% .

GNAS 6188 99% McCune-Albright Syndrome

GNAS 6188 99% Pseudohypoparathyroidism Type IA

GNAS 6188 99% Osseus Heteroplasia, Progressive

GNAS 6188 99% Pseudohypoparathyroidism Type IB

GNAS 6188 99% Choriodal Dystrophy, Central Areolar 2

GNAT1 1085 100% Congenital Stationary Night Blindness, Autosomal Dominant 3

GNAT2 1097 100% Achromatopsia

GNAT2 1097 100% Achromatopsia 4

GNAT3 1097 100% .

GNAZ 1076 100% .

GNB1 1059 100% .

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GNB1L 1008 100% .

GNB2 1059 98% .

GNB2L1 986 100% .

GNB3 1059 99% .

GNB4 1059 100% .

GNB5 1236 98% .

GNE 3227 100% Sialuria

GNE 3227 100% Inclusion Body Myopathy 2

GNE 3227 100% Nonaka Myopathy

GNE 3227 100% GNE-Related Myopathies

GNG10 215 67% .

GNG11 230 100% .

GNG12 227 100% .

GNG13 212 100% .

GNG2 224 100% .

GNG3 236 100% .

GNG4 236 100% .

GNG5 215 100% .

GNG7 215 63% .

GNG8 221 100% .

GNGT1 233 100% .

GNGT2 218 100% .

GNL1 1872 98% .

GNL2 2260 100% .

GNL3 1773 100% .

GNL3L 1809 100% .

GNLY 469 100% .

GNMT 912 77% .

GNPAT 2107 100% Rhizomelic Chondrodysplasia Punctata Type 2

GNPAT 2107 100% Choriodal Dystrophy, Central Areolar 2

GNPDA1 894 100% .

GNPDA2 855 100% .

GNPNAT1 575 100% .

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GNPTAB 3855 100% Mucolipidosis II

GNPTAB 3855 100% Mucolipidosis III Alpha/Beta

GNPTAB 3855 100% GNPTAB-Related Mucolipidoses

GNPTAB 3855 100% Choriodal Dystrophy, Central Areolar 2

GNPTG 962 81% Mucolipidosis III Gamma

GNRH1 291 100% Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

GNRH1 291 100% GNRH1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

GNRH2 699 100% .

GNRHR 1472 100% Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

GNRHR 1472 100% GNRHR-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

GNS 1715 90% Mucopolysaccharidosis Type IIID

GNS 1715 90% Choriodal Dystrophy, Central Areolar 2

GOLGA1 2388 94% .

GOLGA2 3113 100% .

GOLGA3 5013 98% .

GOLGA4 6883 100% .

GOLGA5 2244 100% .

GOLGA6A 2154 60% .

GOLGA6B 2154 67% .

GOLGA6C 2154 70% .

GOLGA6D 2154 54% .

GOLGA6L1 2043 22% .

GOLGA6L10 2942 47% .

GOLGA6L6 2285 10% .

GOLGA6L9 2670 0% .

GOLGA7 492 88% .

GOLGA7B 580 97% .

GOLGA8A 1876 34% .

GOLGA8B 1876 28% .

GOLGB1 9864 100% .

GOLIM4 2155 100% .

GOLM1 1242 100% .

GOLPH3 913 97% .

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GOLPH3L 874 100% .

GOLT1A 419 94% .

GOLT1B 437 100% .

GON4L 8795 98% .

GOPC 1425 100% .

GORAB 1358 100% Geroderma Osteodysplasticum

GORASP1 1359 97% .

GORASP2 1607 96% .

GOSR1 1006 100% .

GOSR2 1259 97% Progressive Myoclonic Epilepsy 6

GOT1 1278 100% .

GOT1L1 1302 100% .

GOT2 1333 100% .

GP1BA 1963 100% Bernard-Soulier Syndrome Type A

GP1BA 1963 100% Pseudo-von Willebrand Disease

GP1BA 1963 100% Choriodal Dystrophy, Central Areolar 2

GP1BB 629 9% Bernard-Soulier Syndrome Type B

GP1BB 629 9% Choriodal Dystrophy, Central Areolar 2

GP2 1658 99% .

GP5 1687 96% .

GP6 3042 92% .

GP9 538 83% Bernard-Soulier Syndrome Type C

GPA33 988 100% .

GPAA1 1914 96% .

GPAM 2567 100% .

GPANK1 1079 100% .

GPAT2 2472 66% .

GPATCH1 2876 97% .

GPATCH2 1627 100% .

GPATCH3 1606 100% .

GPATCH4 1259 100% .

GPATCH8 4541 100% .

GPBAR1 997 100% .

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GPBP1 1848 99% .

GPBP1L1 1465 100% .

GPC1 1713 86% .

GPC2 1780 77% .

GPC3 2014 95% GPC3-Related Simpson-Golabi-Behmel Syndrome Type 1

GPC3 2014 95% Simpson-Golabi-Behmel Syndrome Type 1

GPC3 2014 95% Choriodal Dystrophy, Central Areolar 2

GPC4 1707 100% GPC4-Related Simpson-Golabi-Behmel Syndrome Type 1

GPC4 1707 100% Simpson-Golabi-Behmel Syndrome Type 1

GPC5 1751 97% .

GPC6 1704 100% Omodysplasia 1

GPCPD1 2095 100% .

GPCRLTM7 826 100% .

GPD1 1082 100% .

GPD1L 1088 99% Brugada Syndrome

GPD1L 1088 99% Brugada Syndrome 2

GPD2 2248 100% .

GPER 1132 100% .

GPHA2 402 100% .

GPHB5 284 100% .

GPHN 2402 100% Hyperekplexia

GPHN 2402 100% GPHN-Related Hyperekplexia

GPI 2003 94% .

GPIHBP1 571 72% .

GPKOW 1475 97% .

GPLD1 2758 99% .

GPM6A 873 100% .

GPM6B 1112 99% .

GPN1 1809 92% .

GPN2 953 100% .

GPN3 1168 86% .

GPNMB 1902 100% .

GPR1 1072 100% .

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GPR101 1531 100% .

GPR107 1883 88% .

GPR108 1704 95% .

GPR110 2839 98% .

GPR111 1957 100% .

GPR112 9335 100% .

GPR113 3967 94% .

GPR114 1631 100% .

GPR115 2120 100% .

GPR116 4121 100% .

GPR119 1012 100% .

GPR12 1009 100% .

GPR123 1707 82% .

GPR124 4093 73% .

GPR125 4042 96% .

GPR126 4086 100% .

GPR128 2458 100% .

GPR132 1151 100% .

GPR133 2725 96% .

GPR135 1489 80% .

GPR137 2797 97% .

GPR137B 1228 99% .

GPR137C 1318 92% .

GPR139 1070 99% .

GPR141 922 100% .

GPR142 1405 100% .

GPR143 1251 76% Ocular Albinism, X-Linked

GPR143 1251 76% Congenital Nystagmus 6, X-Linked

GPR143 1251 76% Choriodal Dystrophy, Central Areolar 2

GPR144 2972 48% .

GPR146 1006 94% .

GPR148 1048 100% .

GPR149 2212 100% .

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GPR15 1087 100% .

GPR150 1309 34% .

GPR151 1264 100% .

GPR152 1417 100% .

GPR153 1850 60% .

GPR155 2673 100% .

GPR156 2611 100% .

GPR157 1024 81% .

GPR158 3692 98% .

GPR160 1021 100% .

GPR161 1610 100% .

GPR162 1802 97% .

GPR17 2156 100% .

GPR171 964 100% .

GPR172A 1354 100% .

GPR172B 1363 100% .

GPR173 1126 92% .

GPR174 1006 100% .

GPR176 1560 91% .

GPR179 7148 98% .

GPR18 1000 100% .

GPR180 1359 89% .

GPR182 1219 100% .

GPR183 1090 100% .

GPR19 1252 100% .

GPR20 1081 87% .

GPR21 1054 100% .

GPR22 1306 100% .

GPR25 1090 85% .

GPR26 1026 90% .

GPR27 1132 63% .

GPR3 997 100% .

GPR31 964 99% .

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GPR32 1075 100% .

GPR33 1006 0% .

GPR34 1150 100% .

GPR35 1969 95% .

GPR37 1850 100% .

GPR37L1 1454 100% .

GPR39 1370 100% .

GPR4 1093 100% .

GPR45 1123 100% .

GPR50 1862 100% .

GPR52 1090 100% .

GPR55 964 100% .

GPR56 2882 100% Polymicrogyria

GPR6 1093 100% .

GPR61 1360 100% .

GPR62 1111 58% .

GPR63 1264 100% .

GPR64 3214 100% .

GPR65 1018 100% .

GPR68 1102 68% .

GPR75 1627 100% .

GPR75-ASB3 1711 94% .

GPR77 1018 100% .

GPR78 1104 91% .

GPR82 1015 100% .

GPR83 1288 100% .

GPR84 1195 100% .

GPR85 1117 100% .

GPR87 1085 100% .

GPR88 1159 71% .

GPR89A 1488 89% .

GPR89B 1434 30% .

GPR89C 1998 0% .

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GPR97 1698 96% .

GPR98 19281 100% Usher Syndrome Type 2

GPR98 19281 100% Usher Syndrome Type 2C

GPRASP1 4192 100% .

GPRASP2 2521 100% .

GPRC5A 1086 100% .

GPRC5B 1224 100% .

GPRC5C 1485 100% .

GPRC5D 1050 100% .

GPRC6A 2805 100% .

GPRIN1 3031 92% .

GPRIN2 1381 99% .

GPRIN3 2335 100% .

GPS1 2002 93% .

GPS2 1024 95% .

GPSM1 2707 55% .

GPSM2 2111 100% .

GPSM3 499 97% .

GPT 1535 76% .

GPT2 1710 94% .

GPX1 966 84% .

GPX2 581 100% .

GPX3 701 100% .

GPX4 1102 77% .

GPX5 790 100% .

GPX6 686 100% .

GPX7 576 92% .

GPX8 642 100% .

GRAMD1A 2255 96% .

GRAMD1B 2297 100% .

GRAMD1C 2181 99% .

GRAMD2 1113 96% .

GRAMD3 1974 91% .

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GRAMD4 1809 96% .

GRAP 674 48% .

GRAP2 1021 100% .

GRAPL 373 0% .

GRASP 1220 55% .

GRB10 2076 100% .

GRB14 1679 94% .

GRB2 674 100% .

GRB7 1814 100% .

GREB1 6086 99% .

GREB1L 5896 77% .

GREM1 2236 100% .

GREM2 511 100% .

GRHL1 1921 100% .

GRHL2 1942 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

GRHL2 1942 100% DFNA28 Nonsyndromic Hearing Loss and Deafness

GRHL3 2291 98% .

GRHPR 1023 95% Hyperoxaluria, Primary, Type 2

GRHPR 1023 95% Hyperoxaluria, Primary

GRHPR 1023 95% Choriodal Dystrophy, Central Areolar 2

GRIA1 2904 100% .

GRIA2 2976 100% .

GRIA3 2864 100% X-Linked Mental Retardation 94

GRIA4 3290 100% .

GRID1 3094 98% .

GRID2 3088 100% .

GRID2IP 3724 54% .

GRIK1 2985 99% .

GRIK2 2964 100% .

GRIK3 2824 99% .

GRIK4 2947 87% .

GRIK5 3019 83% .

GRIN1 3037 85% .

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GRIN2A 8051 100% Epilepsy with Neurodevelopmental Defects

GRIN2B 4503 100% .

GRIN2C 3750 65% .

GRIN2D 4059 54% .

GRIN3A 3384 94% .

GRIN3B 3168 53% .

GRINA 1140 99% .

GRIP1 3327 100% .

GRIP2 3522 95% .

GRIPAP1 3062 92% .

GRK1 1720 58% Oguchi Disease 2

GRK4 1801 97% .

GRK5 1837 100% .

GRK6 1941 99% .

GRK7 1678 100% .

GRM1 3682 100% .

GRM2 3719 100% .

GRM3 2660 100% .

GRM4 2779 100% .

GRM5 3675 93% .

GRM6 2674 81% GRM6-Related Autosomal Recessive Congenital Stationary Night Blindness

GRM6 2674 81% Congenital Stationary Night Blindness, Type 1B

GRM7 2863 99% .

GRM8 3118 100% .

GRN 1830 100% GRN-Related Frontotemporal Dementia

GRP 844 83% .

GRPEL1 670 100% .

GRPEL2 694 94% .

GRPR 1167 100% .

GRSF1 1640 78% .

GRTP1 1043 99% .

GRWD1 1369 91% .

GRXCR1 889 100% .

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GRXCR2 759 100% .

GSC 786 40% .

GSC2 630 47% .

GSDMA 1382 100% .

GSDMB 1291 100% .

GSDMC 1579 100% .

GSDMD 1495 85% .

GSG1 1777 100% .

GSG1L 1181 71% .

GSG2 2401 100% .

GSK3A 1496 76% .

GSK3B 1350 100% .

GSN 2654 97% Amyloidosis V

GSPT1 2252 93% .

GSPT2 1891 100% .

GSR 1621 81% .

GSS 1473 100% Glutathione Synthetase Deficiency

GSS 1473 100% Choriodal Dystrophy, Central Areolar 2

GSTA1 693 100% .

GSTA2 693 100% .

GSTA3 693 100% .

GSTA4 693 100% .

GSTA5 693 100% .

GSTCD 2376 100% .

GSTK1 1495 100% .

GSTM1 689 45% Lung Cancer

GSTM1 689 45% Lung Cancer, GSTM1-Related

GSTM1 689 45% Choriodal Dystrophy, Central Areolar 2

GSTM2 702 100% .

GSTM3 710 91% .

GSTM4 714 100% .

GSTM5 689 100% .

GSTO1 863 100% .

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GSTO2 869 99% .

GSTP1 661 98% .

GSTT1 743 81% .

GSTT2 1510 33% .

GSTT2B 755 31% .

GSTZ1 772 98% .

GSX1 803 69% .

GSX2 923 79% .

GTDC1 1413 100% .

GTF2A1 1273 100% .

GTF2A1L 1473 98% .

GTF2A2 346 100% .

GTF2B 979 100% .

GTF2E1 1336 100% .

GTF2E2 904 100% .

GTF2F1 1606 97% .

GTF2F2 782 92% .

GTF2H1 1703 100% .

GTF2H2 1248 43% .

GTF2H2C 1248 53% .

GTF2H2D 1248 53% .

GTF2H3 979 100% .

GTF2H4 1441 100% .

GTF2H5 224 100% .

GTF2I 3193 72% .

GTF2IRD1 3442 98% .

GTF2IRD2 2910 82% .

GTF2IRD2B 2910 83% .

GTF3A 1134 96% .

GTF3C1 6478 98% .

GTF3C2 2808 100% .

GTF3C3 2841 100% .

GTF3C4 2489 96% .

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GTF3C5 1629 97% .

GTF3C6 666 91% .

GTPBP1 2058 91% .

GTPBP10 1204 100% .

GTPBP2 1857 98% .

GTPBP3 2647 93% .

GTPBP4 1973 100% .

GTPBP5 1245 100% .

GTPBP6 1778 45% .

GTPBP8 879 100% .

GTSE1 2264 100% .

GTSF1 532 100% .

GTSF1L 1353 100% .

GUCA1A 622 100% Cone Dystrophy 3

GUCA1B 619 100% Retinitis Pigmentosa, Autosomal Dominant

GUCA1B 619 100% Retinitis Pigmentosa

GUCA1B 619 100% GUCA1B-Related Retinitis Pigmentosa

GUCA1C 646 100% .

GUCA2A 360 79% .

GUCA2B 351 100% .

GUCY1A2 2231 99% .

GUCY1A3 3745 100% .

GUCY1B3 1916 100% .

GUCY2C 3330 100% .

GUCY2D 3384 80% Leber Congenital Amaurosis

GUCY2D 3384 80% GUCY2D-Related Leber Congenital Amaurosis

GUCY2D 3384 80% Cone-Rod Dystrophy 6

GUCY2D 3384 80% Choriodal Dystrophy, Central Areolar 2

GUCY2F 3399 100% .

GUF1 2078 100% .

GUK1 844 93% .

GULP1 1031 100% .

GUSB 2004 100% Mucopolysaccharidosis Type VII

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GUSB 2004 100% Choriodal Dystrophy, Central Areolar 2

GXYLT1 1355 87% .

GXYLT2 1360 84% .

GYG1 1379 100% .

GYG2 1829 92% .

GYLTL1B 2218 80% .

GYPA 481 99% .

GYPB 296 100% .

GYPC 403 94% .

GYPE 249 100% .

GYS1 2278 87% Glycogen Storage Disease Type 0, Muscle

GYS2 2176 100% Glycogen Storage Disease Type 0, Liver

GZF1 2156 100% .

GZMA 809 100% .

GZMB 764 100% .

GZMH 761 100% .

GZMK 815 100% .

GZMM 794 74% .

H1F0 589 100% .

H1FNT 772 93% .

H1FOO 1061 68% .

H1FX 646 83% .

H2AFB1 1056 20% .

H2AFB2 704 0% .

H2AFB3 1056 20% .

H2AFJ 394 100% .

H2AFV 497 100% .

H2AFX 436 100% .

H2AFY 1361 100% .

H2AFY2 1151 100% .

H2AFZ 407 100% .

H2BFM 473 100% .

H2BFWT 536 100% .

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H3F3A 423 100% .

H3F3B 423 100% .

H3F3C 412 100% .

H6PD 2392 100% .

HAAO 901 89% .

HABP2 1776 100% Factor VII Marburg I Variant Thrombophilia

HABP4 1274 73% .

HACE1 2826 97% .

HACL1 1805 100% .

HADH 1032 100% Familial Hyperinsulinism

HADH 1032 100% 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency

HADH 1032 100% HADH-Related Hyperinsulinism

HADH 1032 100% Choriodal Dystrophy, Central Areolar 2

HADHA 2372 99% Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

HADHA 2372 99% Trifunctional Protein Deficiency

HADHA 2372 99% Choriodal Dystrophy, Central Areolar 2

HADHB 1485 100% Trifunctional Protein Deficiency

HADHB 1485 100% Choriodal Dystrophy, Central Areolar 2

HAGH 1140 93% .

HAGHL 1449 56% .

HAL 2054 100% Histidinemia

HAL 2054 100% Choriodal Dystrophy, Central Areolar 2

HAMP 267 100% Juvenile Hereditary Hemochromatosis

HAMP 267 100% HAMP-Related Juvenile Hemochromatosis

HAND1 656 100% .

HAND2 662 79% .

HAO1 1145 100% .

HAO2 1084 100% .

HAP1 2036 98% .

HAPLN1 1081 100% .

HAPLN2 1043 75% .

HAPLN3 1099 100% .

HAPLN4 1229 75% .

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HARBI1 1058 100% .

HARS 1582 100% .

HARS2 1573 93% .

HAS1 1757 73% .

HAS2 1671 100% .

HAS3 1786 100% .

HAT1 1304 100% .

HAUS1 873 96% .

HAUS2 732 87% .

HAUS3 1828 100% .

HAUS4 1128 100% .

HAUS5 1978 90% .

HAUS6 2936 100% .

HAUS7 1147 83% .

HAUS8 1377 100% .

HAVCR1 1127 100% .

HAVCR2 934 100% .

HAX1 1135 100% Severe Congenital Neutropenia, Autosomal Recessive, 3

HBA1 441 94% Alpha-Thalassemia

HBA1 441 94% Choriodal Dystrophy, Central Areolar 2

HBA2 441 68% Alpha-Thalassemia

HBA2 441 68% Hemoglobin Constant Spring

HBA2 441 68% Hemoglobin Quong Sze

HBA2 441 68% Hemoglobin Pakse

HBA2 441 68% Choriodal Dystrophy, Central Areolar 2

HBB 456 100% Beta-Thalassemia

HBB 456 100% Hemoglobin SC

HBB 456 100% Hemoglobin SD

HBB 456 100% Hemoglobin E

HBB 456 100% Hemoglobin SS

HBB 456 100% Hemoglobin SO

HBB 456 100% Sickle Cell Disease

HBB 456 100% Hemoglobin S Beta-Thalassemia

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HBB 456 100% Hereditary Persistence of Fetal Hemoglobin

HBB 456 100% Choriodal Dystrophy, Central Areolar 2

HBD 456 100% Hereditary Persistence of Fetal Hemoglobin

HBE1 456 100% .

HBEGF 647 99% .

HBG1 456 77% .

HBG2 456 100% .

HBM 438 83% .

HBP1 1758 100% .

HBQ1 441 65% .

HBS1L 3600 100% .

HBXIP 538 100% .

HBZ 441 23% Alpha-Thalassemia

HBZ 441 23% Choriodal Dystrophy, Central Areolar 2

HCAR1 1045 100% .

HCAR2 1096 100% .

HCAR3 1168 99% .

HCCS 831 100% Microphthalmia with Linear Skin Defects Syndrome

HCFC1 6212 89% .

HCFC1R1 433 78% .

HCFC2 2439 99% .

HCK 1871 89% .

HCLS1 1513 100% .

HCN1 2705 95% .

HCN2 2702 69% .

HCN3 2357 96% .

HCN4 3644 80% Brugada Syndrome

HCN4 3644 80% Sick Sinus Syndrome 2, Autosomal Dominant

HCN4 3644 80% Brugada Syndrome 8

HCRT 404 43% .

HCRTR1 1306 100% .

HCRTR2 1363 100% .

HCST 343 100% .

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HDAC1 1505 93% .

HDAC10 2090 95% .

HDAC11 1358 98% .

HDAC2 1523 97% .

HDAC3 1347 100% .

HDAC4 3359 95% Brachydactyly-Mental Retardation Syndrome

HDAC5 3555 95% .

HDAC6 3760 95% .

HDAC7 3080 76% .

HDAC8 1414 100% .

HDAC9 4373 100% .

HDC 2037 100% .

HDDC2 639 87% .

HDDC3 439 74% .

HDGF 956 95% .

HDGFL1 760 59% .

HDGFRP2 2188 54% .

HDGFRP3 636 93% .

HDHD1 1120 77% .

HDHD2 804 100% .

HDHD3 760 100% .

HDLBP 3991 100% .

HDX 3217 100% .

HEATR1 6611 100% .

HEATR2 2620 71% .

HEATR3 2103 97% .

HEATR4 3004 100% .

HEATR5A 5382 100% .

HEATR5B 6356 100% .

HEATR6 3626 98% .

HEATR7A 5226 29% .

HEATR7B2 4926 100% .

HEATR8 4060 100% .

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HEBP1 586 100% .

HEBP2 634 83% .

HECA 1648 83% .

HECTD1 8001 100% .

HECTD2 2557 95% .

HECTD3 2670 95% .

HECW1 4933 100% .

HECW2 4831 100% .

HEG1 4214 92% .

HELB 3316 100% .

HELLS 2605 99% .

HELQ 3378 100% .

HELT 1000 100% .

HELZ 5949 100% .

HEMGN 1471 100% .

HEMK1 1057 100% .

HENMT1 1210 100% .

HEPACAM 1279 76% HEPACAM-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts

HEPACAM 1279 76% Megalencephalic Leukoencephalopathy with Subcortical Cysts

HEPACAM2 1870 100% .

HEPH 4331 95% .

HEPHL1 3560 100% .

HEPN1 271 100% .

HERC1 14894 100% .

HERC2 14873 99% .

HERC3 3249 100% .

HERC4 3270 100% .

HERC5 3167 92% .

HERC6 3161 97% .

HERPUD1 1287 98% .

HERPUD2 1253 100% .

HES1 859 100% .

HES2 538 32% .

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HES3 573 47% .

HES4 1328 63% .

HES5 513 32% .

HES6 777 58% .

HES7 1180 32% Spondylocostal Dysostosis

HES7 1180 32% HES7-Related Spondylocostal Dysostosis, Autosomal Recessive

HES7 1180 32% Spondylocostal Dysostosis, Autosomal Recessive

HESX1 574 100% Septooptic Dysplasia

HESX1 574 100% HESX1-Related Combined Pituitary Hormone Deficiency

HESX1 574 100% Choriodal Dystrophy, Central Areolar 2

HEXA 1646 100% Hexosaminidase A Deficiency

HEXA 1646 100% Choriodal Dystrophy, Central Areolar 2

HEXB 1727 98% Sandhoff Disease

HEXB 1727 98% Choriodal Dystrophy, Central Areolar 2

HEXDC 1802 99% .

HEXIM1 1084 100% .

HEXIM2 869 74% .

HEY1 1047 84% .

HEY2 1034 94% .

HEYL 1007 67% .

HFE 1619 100% HFE-Associated Hereditary Hemochromatosis

HFE 1619 100% Choriodal Dystrophy, Central Areolar 2

HFE2 2485 100% Juvenile Hereditary Hemochromatosis

HFE2 2485 100% HJV (HFE2)-Related Juvenile Hemochromatosis

HFM1 4460 100% .

HGC6.3 520 0% .

HGD 1394 100% Alkaptonuria

HGD 1394 100% Choriodal Dystrophy, Central Areolar 2

HGF 2589 97% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

HGF 2589 97% DFNB39 Nonsyndromic Hearing Loss and Deafness

HGFAC 2024 86% .

HGS 2422 96% .

HGSNAT 1980 94% Mucopolysaccharidosis Type IIIC

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HHAT 1624 94% .

HHATL 1559 99% .

HHEX 829 56% .

HHIP 2155 100% .

HHIPL1 2486 61% .

HHIPL2 2211 100% .

HHLA1 1660 92% .

HHLA2 1277 100% .

HHLA3 1193 90% .

HIAT1 1521 97% .

HIATL1 1569 93% .

HIBADH 1043 91% .

HIBCH 1337 100% .

HIC1 4379 64% .

HIC2 1856 99% .

HIF1A 2892 99% .

HIF1AN 1082 96% .

HIF3A 2375 94% .

HIGD1A 463 100% .

HIGD1B 312 100% .

HIGD1C 306 88% .

HIGD2A 329 100% .

HILPDA 196 100% .

HINFP 2009 100% .

HINT1 393 100% .

HINT2 512 83% .

HINT3 569 64% .

HIP1 3238 96% .

HIP1R 3335 81% .

HIPK1 4284 100% .

HIPK2 3869 98% .

HIPK3 3712 100% .

HIPK4 1867 94% .

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HIRA 3154 100% .

HIRIP3 1802 100% .

HIST1H1A 652 100% .

HIST1H1B 685 100% .

HIST1H1C 646 100% .

HIST1H1D 670 100% .

HIST1H1E 664 100% .

HIST1H1T 628 100% .

HIST1H2AA 400 100% .

HIST1H2AB 397 100% .

HIST1H2AC 397 100% .

HIST1H2AD 397 100% .

HIST1H2AE 397 100% .

HIST1H2AG 397 100% .

HIST1H2AH 391 100% .

HIST1H2AI 397 100% .

HIST1H2AJ 391 100% .

HIST1H2AK 397 100% .

HIST1H2AL 397 100% .

HIST1H2AM 397 100% .

HIST1H2BA 388 100% .

HIST1H2BB 385 100% .

HIST1H2BC 385 100% .

HIST1H2BD 385 100% .

HIST1H2BE 385 100% .

HIST1H2BF 385 100% .

HIST1H2BG 385 100% .

HIST1H2BH 385 100% .

HIST1H2BI 385 100% .

HIST1H2BJ 385 100% .

HIST1H2BK 385 100% .

HIST1H2BL 385 100% .

HIST1H2BM 385 100% .

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HIST1H2BN 385 100% .

HIST1H2BO 385 100% .

HIST1H3A 415 100% .

HIST1H3B 415 100% .

HIST1H3C 415 100% .

HIST1H3D 415 100% .

HIST1H3E 415 100% .

HIST1H3F 415 100% .

HIST1H3G 415 100% .

HIST1H3H 415 100% .

HIST1H3I 415 100% .

HIST1H3J 415 100% .

HIST1H4A 316 100% .

HIST1H4B 316 100% .

HIST1H4C 316 100% .

HIST1H4D 316 100% .

HIST1H4E 316 100% .

HIST1H4F 316 100% .

HIST1H4G 301 100% .

HIST1H4H 316 100% .

HIST1H4I 316 100% .

HIST1H4J 316 99% .

HIST1H4K 316 100% .

HIST1H4L 316 100% .

HIST2H2AA3 794 0% .

HIST2H2AA4 794 0% .

HIST2H2AB 397 100% .

HIST2H2AC 394 100% .

HIST2H2BE 385 100% .

HIST2H2BF 1187 97% .

HIST2H3A 830 0% .

HIST2H3C 830 0% .

HIST2H3D 415 100% .

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HIST2H4A 632 0% .

HIST2H4B 632 0% .

HIST3H2A 397 100% .

HIST3H2BB 385 100% .

HIST3H3 415 100% .

HIST4H4 316 100% .

HIVEP1 8189 100% .

HIVEP2 7365 100% .

HIVEP3 8065 95% .

HJURP 2283 95% .

HK1 3004 99% .

HK2 2826 94% .

HK3 2844 95% .

HKDC1 2826 100% .

HKR1 1996 100% .

HLA-A 1130 100% .

HLA-B 1117 99% .

HLA-C 1133 99% .

HLA-DMA 806 100% .

HLA-DMB 816 98% .

HLA-DOA 773 98% .

HLA-DOB 846 97% .

HLA-DPA1 799 100% .

HLA-DPB1 797 100% .

HLA-DQA1 784 97% Celiac Disease

HLA-DQA2 784 100% .

HLA-DQB1 806 99% Celiac Disease

HLA-DQB2 704 100% .

HLA-DRA 781 100% .

HLA-DRB1 1099 96% .

HLA-DRB5 825 81% .

HLA-E 1105 100% .

HLA-F 1366 100% .

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HLA-G 1041 100% .

HLCS 2217 100% Holocarboxylase Synthetase Deficiency

HLCS 2217 100% Choriodal Dystrophy, Central Areolar 2

HLF 904 100% .

HLTF 3130 100% .

HLX 1483 99% .

HM13 1713 96% .

HMBOX1 1299 100% .

HMBS 1200 90% Hydroxymethylbilane Synthase Deficiency

HMBS 1200 90% Choriodal Dystrophy, Central Areolar 2

HMCN1 17336 100% Age-Related Macular Degeneration

HMCN1 17336 100% Age-Related Macular Degeneration 1

HMG20A 1076 100% .

HMG20B 990 73% .

HMGA1 479 88% .

HMGA2 426 73% .

HMGB1 664 100% .

HMGB2 646 100% .

HMGB3 619 100% .

HMGB4 565 100% .

HMGCL 1014 94% 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency

HMGCL 1014 94% Choriodal Dystrophy, Central Areolar 2

HMGCLL1 1153 100% .

HMGCR 2743 100% .

HMGCS1 1599 100% .

HMGCS2 1563 100% 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency

HMGN1 327 94% .

HMGN2 297 95% .

HMGN3 603 100% .

HMGN4 277 100% .

HMGN5 873 47% .

HMGXB3 3955 97% .

HMGXB4 1846 100% .

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HMHA1 3503 82% .

HMHB1 134 72% .

HMMR 2352 99% .

HMOX1 887 96% .

HMOX2 971 100% .

HMP19 532 100% .

HMSD 432 100% .

HMX1 1055 20% .

HMX2 830 99% .

HMX3 1082 75% .

HN1 985 94% .

HN1L 593 92% .

HNF1A 1936 99% Maturity-Onset Diabetes of the Young Type 3

HNF1A 1936 99% Choriodal Dystrophy, Central Areolar 2

HNF1B 1979 91% Renal Cysts and Diabetes Syndrome

HNF1B 1979 91% Choriodal Dystrophy, Central Areolar 2

HNF4A 2166 99% HNF4A-Related Maturity-Onset Diabetes of the Young Type 1

HNF4A 2166 99% Maturity-Onset Diabetes of the Young Type 1

HNF4G 1378 100% .

HNMT 1121 100% Asthma, Susceptibility to

HNMT 1121 100% Asthma, HNMT-Related Susceptibility to

HNRNPA0 922 92% .

HNRNPA1 1159 100% .

HNRNPA1L2 967 100% .

HNRNPA2B1 1106 100% .

HNRNPA3 1177 95% .

HNRNPAB 1027 79% .

HNRNPC 1068 100% .

HNRNPCL1 886 100% .

HNRNPD 1100 81% .

HNRNPF 1252 100% .

HNRNPH1 1398 100% .

HNRNPH2 1354 100% .

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HNRNPH3 1266 100% .

HNRNPK 1490 100% .

HNRNPL 2064 86% .

HNRNPM 2649 96% .

HNRNPR 2282 100% .

HNRNPU 3229 98% .

HNRNPUL1 2758 98% .

HNRNPUL2 2300 90% .

HNRPDL 1291 88% .

HNRPLL 1889 85% .

HOGA1 1012 100% Hyperoxaluria, Primary, Type 3

HOGA1 1012 100% Hyperoxaluria, Primary

HOMER1 1101 100% .

HOMER2 1245 99% .

HOMER3 1318 70% .

HOMEZ 1661 97% .

HOOK1 2275 89% .

HOOK2 2252 92% .

HOOK3 2245 97% .

HOPX 664 99% .

HORMAD1 1241 100% .

HORMAD2 964 100% .

HOXA1 2328 100% HOXA1-Related Disorders

HOXA1 2328 100% Athabaskan Brainstem Dysgenesis Syndrome

HOXA1 2328 100% Bosley-Salih-Alorainy Syndrome

HOXA10 1241 82% .

HOXA11 950 86% .

HOXA13 1175 64% Hand-Foot-Genital Syndrome

HOXA13 1175 64% Choriodal Dystrophy, Central Areolar 2

HOXA2 1139 99% Microtia, Hearing Impairment, and Cleft Palate

HOXA3 1340 98% .

HOXA4 971 61% .

HOXA5 821 100% .

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HOXA6 710 100% .

HOXA7 701 97% .

HOXA9 827 89% .

HOXB1 914 100% .

HOXB13 863 100% .

HOXB2 1079 100% .

HOXB3 1304 99% .

HOXB4 764 79% .

HOXB5 818 100% .

HOXB6 683 82% .

HOXB7 662 88% .

HOXB8 740 99% .

HOXB9 761 94% .

HOXC10 1037 100% .

HOXC11 923 93% .

HOXC12 857 67% .

HOXC13 1001 73% .

HOXC4 803 99% .

HOXC5 677 93% .

HOXC6 1120 100% .

HOXC8 737 100% .

HOXC9 791 88% .

HOXD1 995 78% .

HOXD10 1031 100% Congenital Vertical Talus

HOXD11 1025 50% .

HOXD12 821 100% .

HOXD13 1040 88% Syndactyly, Type II

HOXD13 1040 88% Brachydactyly Type D

HOXD13 1040 88% Brachydactyly Type E

HOXD13 1040 88% HOXD13-Related Brachydactyly

HOXD13 1040 88% Choriodal Dystrophy, Central Areolar 2

HOXD3 1307 100% .

HOXD4 776 100% .

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HOXD8 1762 81% .

HOXD9 1067 76% .

HP 1249 98% Anhaptoglobinemia

HP 1249 98% Choriodal Dystrophy, Central Areolar 2

HP1BP3 1710 100% .

HPCA 594 95% .

HPCAL1 594 100% .

HPCAL4 588 100% .

HPD 1347 100% Tyrosinemia Type III

HPD 1347 100% Hawkinsinuria

HPD 1347 100% Choriodal Dystrophy, Central Areolar 2

HPDL 1120 96% .

HPGD 1216 96% Primary Hypertrophic Osteoarthropathy, Autosomal Recessive

HPGD 1216 96% Isolated Congenital Digital Clubbing

HPGDS 620 100% .

HPN 1302 92% .

HPR 1067 100% .

HPRT1 693 96% Lesch-Nyhan Syndrome

HPRT1 693 96% Gout, HPRT1-Related

HPRT1 693 96% Choriodal Dystrophy, Central Areolar 2

HPS1 2325 93% Hermansky-Pudlak Syndrome

HPS1 2325 93% Hermansky-Pudlak Syndrome 1









HPSE 1680 92% .

HPSE2 1865 92% .

HPX 1429 100% .

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HR 3642 84% Atrichia with Papular Lesions

HR 3642 84% Alopecia Universalis

HRAS 653 100% Costello Syndrome

HRASLS 519 100% .

HRASLS2 505 100% .

HRASLS5 1353 90% .

HRC 2124 99% .

HRCT1 352 95% .

HRG 1606 100% .

HRH1 1468 100% .

HRH2 2290 100% .

HRH3 1350 94% .

HRH4 2825 100% .

HRK 280 5% .

HRNR 8561 88% .

HRSP12 438 100% .

HS1BP3 1207 97% .

HS2ST1 1209 100% .

HS3ST1 928 95% .

HS3ST2 1112 92% .

HS3ST3A1 1229 78% .

HS3ST3B1 1181 93% .

HS3ST4 1379 63% .

HS3ST5 1049 100% .

HS3ST6 944 69% .

HS6ST1 1244 82% .

HS6ST2 1958 92% .

HS6ST3 1424 95% .

HSBP1 243 80% .

HSBP1L1 241 0% .

HSCB 732 99% .

HSD11B1 903 100% .

HSD11B1L 1798 41% .

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HSD11B2 1238 78% Apparent Mineralocorticoid Excess Syndrome

HSD11B2 1238 78% Choriodal Dystrophy, Central Areolar 2

HSD17B1 1011 96% .

HSD17B10 923 93% X-Linked Syndromic Mental Retardation 10

HSD17B10 923 93% 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency

HSD17B11 931 100% .

HSD17B12 983 100% .

HSD17B13 931 100% .

HSD17B14 849 98% .

HSD17B2 1184 100% .

HSD17B3 977 100% Prostate Cancer

HSD17B3 977 100% 17-beta Hydroxysteroid Dehydrogenase III Deficiency


HSD17B4 2448 95% Peroxisomal Bifunctional Enzyme Deficiency

HSD17B6 970 100% .

HSD17B7 1062 100% .

HSD17B8 822 88% .

HSD3B1 1134 100% .

HSD3B2 1131 100% Prostate Cancer

HSD3B2 1131 100% 3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia


HSD3B7 1554 97% .

HSDL1 1909 100% .

HSDL2 1301 99% .

HSF1 1642 86% .

HSF2 1755 100% .

HSF2BP 1037 96% .

HSF4 1920 91% Cataract, Lamellar

HSF5 1815 98% .

HSFX1 2560 0% .

HSFX2 2560 0% .

HSFY1 2634 0% .

HSFY2 2634 0% .

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HSH2D 1670 95% .

HSP90AA1 2613 100% .

HSP90AB1 2219 100% .

HSP90B1 2484 99% .

HSPA12A 2076 98% .

HSPA12B 2230 85% .

HSPA13 1436 100% .

HSPA14 1586 99% .

HSPA1A 1930 36% .

HSPA1B 1930 35% .

HSPA1L 1930 100% .

HSPA2 1924 100% .

HSPA4 2599 99% .

HSPA4L 2596 100% .

HSPA5 1997 100% .

HSPA6 1936 99% .

HSPA8 2366 100% .

HSPA9 2108 100% .

HSPB1 630 78% Charcot-Marie-Tooth Neuropathy Type 2

HSPB1 630 78% Charcot-Marie-Tooth Neuropathy Type 2F

HSPB1 630 78% Distal Hereditary Motor Neuronopathy, Type IIB

HSPB11 455 100% .

HSPB2 557 96% .

HSPB3 457 100% Distal Hereditary Motor Neuronopathy, Type IIC

HSPB6 495 36% .

HSPB7 525 99% .

HSPB8 603 100% Charcot-Marie-Tooth Neuropathy Type 2

HSPB8 603 100% Charcot-Marie-Tooth Neuropathy Type 2L

HSPB8 603 100% Distal Hereditary Motor Neuronopathy, Type IIA

HSPB9 484 100% .

HSPBAP1 1499 100% .

HSPBP1 1108 86% .

HSPD1 1766 100% Spastic Paraplegia 13

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HSPE1 325 99% .

HSPE1-MOB4 822 99% .

HSPG2 13564 90% Dyssegmental Dysplasia, Silverman-Handmaker Type

HSPG2 13564 90% Schwartz-Jampel Syndrome, Type 1

HSPH1 2649 100% .

HTATIP2 1365 92% .

HTATSF1 2304 100% .

HTN1 190 100% .

HTN3 172 100% .

HTR1A 1273 100% .

HTR1B 1177 100% .

HTR1D 1138 100% .

HTR1E 1102 100% .

HTR1F 1105 100% .

HTR2A 1592 90% .

HTR2B 1458 100% .

HTR2C 1393 100% .

HTR3A 2675 99% .

HTR3B 1362 100% .

HTR3C 1380 100% .

HTR3D 2620 97% .

HTR3E 1448 100% .

HTR4 1483 100% .

HTR5A 1082 100% .

HTR6 1335 100% .

HTR7 2275 100% .

HTRA1 1479 68% Age-Related Macular Degeneration

HTRA1 1479 68% Age-Related Macular Degeneration 7

HTRA1 1479 68% CARASIL

HTRA2 1409 100% Parkinson Disease

HTRA2 1409 100% HTRA2-Related Parkinson Disease

HTRA3 1398 83% .

HTRA4 1467 79% .

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HTT 9697 96% Huntington Disease

HTT 9697 96% Choriodal Dystrophy, Central Areolar 2

HUNK 2189 96% .

HUS1 875 100% .

HUS1B 841 100% .

HUWE1 13449 98% Mental Retardation, X-Linked, Syndromic, Turner Type

HVCN1 1135 100% .

HYAL1 3128 100% Mucopolysaccharidosis Type IX

HYAL2 1434 100% .

HYAL3 2170 100% .

HYAL4 1458 100% .

HYDIN 16565 88% .

HYI 1199 77% .

HYLS1 904 100% Hydrolethalus Syndrome 1

HYOU1 3100 100% .

IAH1 771 99% .

IAPP 278 100% .

IARS 3921 100% .

IARS2 3131 100% .

IBA57 1083 66% .

IBSP 978 100% .

IBTK 4174 100% .

ICA1 1504 100% .

ICA1L 1602 100% .

ICAM1 1627 100% .

ICAM2 844 100% .

ICAM3 1672 99% .

ICAM4 1776 99% .

ICAM5 2819 84% .

ICK 1951 100% .

ICMT 875 78% .

ICOS 620 100% Common Variable Immune Deficiency

ICOSLG 937 91% .

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ICT1 645 99% .

ID1 954 100% .

ID2 413 100% .

ID3 368 100% .

ID4 494 72% .

IDAS 1186 0% .

IDE 3247 97% .

IDH1 1277 100% .

IDH2 1403 84% D-2-Hydroxyglutaric Aciduria 2

IDH3A 1145 97% .

IDH3B 1579 100% Retinitis Pigmentosa, Autosomal Recessive

IDH3B 1579 100% Retinitis Pigmentosa

IDH3B 1579 100% IDH3B-Related Retinitis Pigmentosa

IDH3G 1425 89% .

IDI1 875 94% .

IDI2 700 100% .

IDO1 1252 100% .

IDO2 1307 100% .

IDS 2042 100% Mucopolysaccharidosis Type II

IDS 2042 100% Choriodal Dystrophy, Central Areolar 2

IDUA 2018 65% Mucopolysaccharidosis Type I

IDUA 2018 65% Choriodal Dystrophy, Central Areolar 2

IER2 676 80% .

IER3 479 80% .

IER3IP1 261 93% .

IER5 988 63% .

IER5L 1219 52% .

IFFO1 2042 98% .

IFFO2 1590 69% .

IFI16 2230 100% .

IFI27 533 97% .

IFI27L1 331 100% .

IFI27L2 409 100% .

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IFI30 781 99% .

IFI35 895 92% .

IFI44 1367 100% .

IFI44L 1391 100% .

IFI6 629 50% .

IFIH1 3142 100% .

IFIT1 1445 100% .

IFIT1B 1433 100% .

IFIT2 1427 100% .

IFIT3 1490 100% .

IFIT5 1457 100% .

IFITM1 386 100% .

IFITM10 401 100% .

IFITM2 407 100% .

IFITM3 410 100% .

IFITM5 407 77% .

IFLTD1 1539 95% .

IFNA1 574 100% .

IFNA10 574 100% .

IFNA13 577 100% .

IFNA14 574 100% .

IFNA16 574 100% .

IFNA17 574 100% .

IFNA2 571 100% .

IFNA21 574 100% .

IFNA4 574 100% .

IFNA5 574 100% .

IFNA6 574 100% .

IFNA7 574 100% .

IFNA8 574 100% .

IFNAR1 1718 96% .

IFNAR2 1740 99% .

IFNB1 568 100% .

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IFNE 631 100% .

IFNG 517 100% .

IFNGR1 1498 100% Familial Atypical Mycobacteriosis, IFNGR1-Related

IFNGR1 1498 100% Choriodal Dystrophy, Central Areolar 2

IFNGR2 1042 93% Familial Atypical Mycobacteriosis, IFNGR2-Related

IFNGR2 1042 93% Choriodal Dystrophy, Central Areolar 2

IFNK 628 100% .

IFNW1 592 100% .

IFRD1 1513 100% .

IFRD2 1569 97% .

IFT122 4108 99% Cranioectodermal Dysplasia 1

IFT122 4108 99% Cranioectodermal Dysplasia

IFT140 4505 96% .

IFT172 5442 100% .

IFT20 467 74% .

IFT27 737 100% .

IFT43 799 100% Cranioectodermal Dysplasia 3

IFT43 799 100% Cranioectodermal Dysplasia

IFT46 1112 100% .

IFT52 1366 100% .

IFT57 1334 100% .

IFT74 1948 100% .

IFT80 2483 100% Asphyxiating Thoracic Dystrophy 2

IFT80 2483 100% Asphyxiating Thoracic Dystrophy

IFT81 2215 95% .

IFT88 2706 99% .

IGBP1 1044 100% Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia

IGDCC3 2501 95% .

IGDCC4 3833 86% .

IGF1 941 100% Insulin-Like Growth Factor I Deficiency

IGF1R 4188 97% Insulin-Like Growth Factor I, Resistance to

IGF2 894 100% Beckwith-Wiedemann Syndrome

IGF2 894 100% Russell-Silver Syndrome

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IGF2 894 100% Chromosome 11p15.5-Related Russell-Silver Syndrome

IGF2 894 100% Choriodal Dystrophy, Central Areolar 2

IGF2BP1 1794 100% .

IGF2BP2 1864 96% .

IGF2BP3 1800 100% .

IGF2R 7668 98% .

IGFALS 3860 70% Acid-Labile Subunit Deficiency

IGFBP1 796 78% .

IGFBP2 994 59% .

IGFBP3 1335 37% .

IGFBP4 793 57% .

IGFBP5 835 79% .

IGFBP6 739 60% .

IGFBP7 1000 54% .

IGFBPL1 853 47% .

IGFL1 349 100% .

IGFL2 432 94% .

IGFL3 394 100% .

IGFL4 391 97% .

IGFLR1 1084 100% .

IGFN1 11219 41% .

IGHMBP2 3042 95% Spinal Muscular Atrophy with Respiratory Distress 1

IGHMBP2 3042 95% Choriodal Dystrophy, Central Areolar 2

IGIP 166 100% .

IGJ 496 100% .

IGLL1 978 91% .

IGLL5 867 59% .

IGLON5 1043 85% .

IGSF1 4570 100% .

IGSF10 9857 100% .

IGSF11 1377 100% .

IGSF21 1444 95% .

IGSF22 4069 73% .

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IGSF3 3689 100% .

IGSF5 1260 93% .

IGSF6 750 100% .

IGSF8 1866 96% .

IGSF9 3767 88% .

IGSF9B 4126 99% .

IHH 1248 100% Brachydactyly Type A1

IHH 1248 100% Choriodal Dystrophy, Central Areolar 2

IK 1754 100% .

IKBIP 2666 100% .

IKBKAP 4143 100% Familial Dysautonomia

IKBKAP 4143 100% Choriodal Dystrophy, Central Areolar 2

IKBKB 2705 95% .

IKBKE 2441 94% .

IKBKG 1710 35% Incontinentia Pigmenti

IKBKG 1710 35% Hypohidrotic Ectodermal Dysplasia with Immune Deficiency

IKBKG 1710 35% Familial Atypical Mycobacteriosis, X-Linked 1

IKBKG 1710 35% Immunodeficiency without Anhidrotic Ectodermal Dysplasia

IKBKG 1710 35% Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema

IKBKG 1710 35% Choriodal Dystrophy, Central Areolar 2

IKZF1 1727 100% .

IKZF2 1880 100% .

IKZF3 1562 100% .

IKZF4 1790 98% .

IKZF5 1272 100% .

IL10 557 100% .

IL10RA 1765 96% Inflammatory Bowel Disease 28, Autosomal Recessive

IL10RB 1006 95% Inflammatory Bowel Disease 25, Autosomal Recessive

IL11 620 41% .

IL11RA 1426 100% .

IL12A 790 100% .

IL12B 1011 100% Familial Atypical Mycobacteriosis, IL12B-Related

IL12B 1011 100% Choriodal Dystrophy, Central Areolar 2

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IL12RB1 2186 94% Familial Atypical Mycobacteriosis, IL12RB1-Related

IL12RB1 2186 94% Choriodal Dystrophy, Central Areolar 2

IL12RB2 2649 100% .

IL13 457 100% .

IL13RA1 1328 93% .

IL13RA2 1179 100% .

IL15 513 100% .

IL15RA 1031 91% .

IL16 5301 100% .

IL17A 480 100% .

IL17B 555 100% .

IL17C 606 100% .

IL17D 617 52% .

IL17F 504 100% .

IL17RA 2653 84% .

IL17RB 1553 97% .

IL17RC 2774 99% .

IL17RD 2272 95% .

IL17RE 3134 71% .

IL17REL 1055 76% .

IL18 602 100% .

IL18BP 1061 100% .

IL18R1 1666 100% .

IL18RAP 1840 100% .

IL19 822 93% .

IL1A 840 100% .

IL1B 834 100% .

IL1F10 475 100% .

IL1R1 1750 100% .

IL1R2 1229 100% .

IL1RAP 2669 100% .

IL1RAPL1 2131 100% X-Linked Mental Retardation 21

IL1RAPL2 2101 100% .

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IL1RL1 1895 100% .

IL1RL2 1772 100% .

IL1RN 871 100% Interleukin 1 Receptor Antagonist Deficiency

IL2 478 100% .

IL20 551 100% .

IL20RA 1690 95% .

IL20RB 964 100% .

IL21 591 100% .

IL21R 1788 97% .

IL22 560 100% .

IL22RA1 1753 100% .

IL22RA2 970 100% .

IL23A 586 100% .

IL23R 1930 100% .

IL24 939 100% .

IL25 837 100% .

IL26 536 100% .

IL27 752 99% .

IL27RA 1967 96% .

IL28A 627 100% .

IL28B 611 100% .

IL28RA 3123 93% .

IL29 623 100% .

IL2RA 851 100% Interleukin 2 Receptor Alpha Chain Deficiency

IL2RB 1692 95% .

IL2RG 1142 100% X-Linked Severe Combined Immunodeficiency

IL2RG 1142 100% Choriodal Dystrophy, Central Areolar 2

IL3 479 100% .

IL31 507 100% .

IL31RA 3022 100% .

IL32 1331 100% .

IL33 841 100% .

IL34 919 97% .

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IL36A 493 100% .

IL36B 732 100% .

IL36G 526 100% .

IL36RN 484 100% .

IL37 748 100% .

IL3RA 2362 50% .

IL4 478 100% .

IL4I1 1815 82% .

IL4R 2532 99% .

IL5 421 100% .

IL5RA 1571 100% .

IL6 659 100% .

IL6R 1698 95% .

IL6ST 3032 100% .

IL7 558 100% .

IL7R 1412 100% Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, IL7R-Related

IL8 316 100% .

IL9 455 100% .

IL9R 3204 44% .

ILDR1 1537 99% .

ILDR2 1960 78% .

ILF2 1229 100% .

ILF3 2987 100% .

ILK 1407 100% .

ILKAP 1227 95% .

ILVBL 1959 94% .

IMMP1L 521 100% .

IMMP2L 548 100% .

IMMT 2579 98% .

IMP3 559 100% .

IMP4 912 94% .

IMP5 2059 100% .

IMPA1 1294 88% .

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IMPA2 899 89% .

IMPACT 1007 96% .

IMPAD1 1100 95% Chondrodysplasia with Joint Dislocations, GRAPP Type

IMPDH1 2146 79% Retinitis Pigmentosa, Autosomal Dominant

IMPDH1 2146 79% Leber Congenital Amaurosis

IMPDH1 2146 79% Retinitis Pigmentosa

IMPDH1 2146 79% IMPDH1-Related Retinitis Pigmentosa

IMPDH1 2146 79% IMPDH1-Related Leber Congenital Amaurosis

IMPDH2 1601 96% .

IMPG1 2462 100% .

IMPG2 3802 100% Retinitis Pigmentosa, Autosomal Recessive

IMPG2 3802 100% Retinitis Pigmentosa

IMPG2 3802 100% IMPG2-Related Retinitis Pigmentosa

INA 1512 82% .

INADL 5574 100% .

INCA1 936 100% .

INCENP 2829 88% .

INF2 3913 84% Focal Segmental Glomerulosclerosis 5

ING1 2133 99% .

ING2 851 88% .

ING3 1321 100% .

ING4 1080 100% .

ING5 755 95% .

INHA 1109 93% .

INHBA 1289 100% .

INHBB 1232 76% .

INHBC 1067 100% .

INHBE 1061 100% .

INMT 1016 100% .

INO80 4811 100% .

INO80B 1091 91% .

INO80C 715 84% .

INO80D 3120 100% .

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INO80E 763 73% .

INPP1 1220 100% .

INPP4A 3475 100% .

INPP4B 2867 100% .

INPP5A 1299 94% .

INPP5B 2834 100% .

INPP5D 3768 89% .

INPP5E 1975 66% Joubert Syndrome and Related Disorders

INPP5E 1975 66% INPP5E-Related Joubert Syndrome

INPP5F 3651 99% .

INPP5J 1969 85% .

INPP5K 1508 95% .

INPPL1 3889 93% .

INS 341 93% Permanent Neonatal Diabetes Mellitus

INS 341 93% INS-Related Permanent Neonatal Diabetes Mellitus

INS 341 93% INS-Related Maturity-Onset Diabetes of the Young Type 1

INS 341 93% Maturity-Onset Diabetes of the Young Type 1

INSC 1897 99% .

INSIG1 1659 95% .

INSIG2 698 100% .

INS-IGF2 615 68% .

INSL3 404 52% .

INSL4 428 100% .

INSL5 416 100% .

INSL6 650 100% .

INSM1 1537 75% .

INSM2 1705 86% .

INSR 4237 96% Donohue Syndrome

INSR 4237 96% Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities

INSR 4237 96% Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans

INSR 4237 96% Choriodal Dystrophy, Central Areolar 2

INSRR 4013 98% .

INTS1 6761 85% .

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INTS10 2201 99% .

INTS12 1413 100% .

INTS2 3715 100% .

INTS3 3249 100% .

INTS4 2984 100% .

INTS5 3068 97% .

INTS6 3023 100% .

INTS7 3209 100% .

INTS8 3096 97% .

INTS9 2177 100% .

INTU 2893 100% .

INVS 4706 100% Nephronophthisis 2

IP6K1 1532 100% .

IP6K2 2928 94% .

IP6K3 1253 100% .

IPCEF1 1426 100% .

IPMK 1275 100% .

IPO11 3316 96% .

IPO13 2972 97% .

IPO4 3366 98% .

IPO5 3456 100% .

IPO7 3217 99% .

IPO8 3242 99% .

IPO9 3222 98% .

IPP 2118 100% .

IPPK 1528 96% .

IQCA1 2545 98% .

IQCB1 1849 100% Senior-Loken Syndrome

IQCB1 1849 100% Senior-Loken Syndrome 5

IQCC 1947 73% .

IQCD 1052 100% .

IQCE 2176 98% .

IQCF1 634 100% .

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IQCF2 507 100% .

IQCF3 477 100% .

IQCF5 455 100% .

IQCF6 328 100% .

IQCG 1372 100% .

IQCH 3296 96% .

IQCJ 736 100% .

IQCJ-SCHIP1 1784 81% .

IQCK 900 97% .

IQGAP1 5126 99% .

IQGAP2 4872 100% .

IQGAP3 5048 100% .

IQSEC1 4065 82% .

IQSEC2 5627 51% .

IQSEC3 4776 92% .

IQUB 2424 100% .

IRAK1 2590 93% .

IRAK1BP1 799 100% .

IRAK2 1930 99% .

IRAK3 1839 93% .

IRAK4 1614 100% IRAK4 Deficiency

IREB2 2980 100% .

IRF1 1014 100% .

IRF2 1082 100% .

IRF2BP1 1759 94% .

IRF2BP2 2824 72% .

IRF2BPL 2395 77% .

IRF3 2033 89% .

IRF4 1537 91% .

IRF5 1887 100% .

IRF6 1641 100% van der Woude Syndrome

IRF6 1641 100% Cleft Lip +/- Cleft Palate

IRF6 1641 100% Popliteal Pterygium Syndrome

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IRF6 1641 100% IRF6-Related Disorders

IRF6 1641 100% Orofacial Cleft 6, Susceptibility to

IRF6 1641 100% Choriodal Dystrophy, Central Areolar 2

IRF7 1837 78% .

IRF8 1313 100% .

IRF9 1214 100% .

IRGC 1396 100% .

IRGM 550 0% .

IRGQ 1880 98% .

IRS1 3733 100% .

IRS2 4025 51% .

IRS4 3778 100% .

IRX1 1459 87% .

IRX2 1432 78% .

IRX3 1522 58% .

IRX4 1580 57% .

IRX5 2265 81% .

IRX6 1365 99% .

ISCA1 406 82% .

ISCA2 481 84% .

ISCU 567 89% Myopathy with Deficiency of ISCU

ISG15 506 100% .

ISG20 558 100% .

ISG20L2 1074 100% .

ISL1 1074 100% .

ISL2 1104 98% .

ISLR 1291 100% .

ISLR2 2242 98% .

ISM1 1419 90% .

ISM2 2266 94% .

ISOC1 917 93% .

ISOC2 809 92% .

ISPD 1396 81% Congenital Muscular Dystrophy

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ISPD 1396 81% ISPD-Related Muscle Diseases

IST1 1119 100% .

ISX 754 98% .

ISY1 972 92% .

ISY1-RAB43 1090 99% .

ISYNA1 1854 89% .

ITCH 2681 100% .

ITFG1 1911 98% .

ITFG2 1392 99% .

ITFG3 1703 100% .

ITGA1 3656 98% .

ITGA10 3624 97% .

ITGA11 3687 96% .

ITGA2 3666 100% Glycoprotein 1a Deficiency

ITGA2 3666 100% Choriodal Dystrophy, Central Areolar 2

ITGA2B 3240 93% Thrombasthenia of Glanzmann and Naegeli, ITGA2B-Related

ITGA2B 3240 93% Choriodal Dystrophy, Central Areolar 2

ITGA3 3416 94% .

ITGA4 3211 100% .

ITGA5 3270 100% .

ITGA6 3488 100% Epidermolysis Bullosa with Pyloric Atresia

ITGA6 3488 100% ITGA6-Related Epidermolysis Bullosa with Pyloric Atresia


ITGA7 3785 95% Congenital Muscular Dystrophy due to Integrin Alpha-7 Deficiency

ITGA7 3785 95% Congenital Muscular Dystrophy


ITGA8 3312 98% .

ITGA9 3220 94% .

ITGAD 3606 98% .

ITGAE 3664 97% .

ITGAL 3698 99% .

ITGAM 3799 99% .

ITGAV 3318 100% .

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ITGAX 3612 98% .

ITGB1 2536 100% .

ITGB1BP1 627 100% .

ITGB1BP2 1088 98% .

ITGB1BP3 721 86% .

ITGB2 2370 99% Leukocyte Adhesion Deficiency, Type 1

ITGB2 2370 99% Choriodal Dystrophy, Central Areolar 2

ITGB3 2427 97% Thrombasthenia of Glanzmann and Naegeli, ITGB3-Related


ITGB3BP 566 100% .

ITGB4 5788 95% Epidermolysis Bullosa with Pyloric Atresia

ITGB4 5788 95% ITGB4-Related Epidermolysis Bullosa with Pyloric Atresia


ITGB5 2460 97% .

ITGB6 2427 100% .

ITGB7 2453 95% .

ITGB8 2366 100% .

ITGBL1 1529 88% .

ITIH1 3112 99% .

ITIH2 2925 100% .

ITIH3 2761 100% .

ITIH4 2889 99% .

ITIH5 3288 99% .

ITIH6 3994 97% .

ITK 1931 100% Lymphoproliferative Syndrome, EBV-Associated, Autosomal, 1

ITLN1 970 100% .

ITLN2 1010 99% .

ITM2A 816 98% .

ITM2B 825 93% .

ITM2C 828 92% .

ITPA 687 100% .

ITPK1 1333 88% .

ITPKA 1414 63% .

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ITPKB 2869 100% .

ITPKC 2080 92% .

ITPR1 8702 100% Spinocerebellar Ataxia Type15

ITPR2 8334 100% .

ITPR3 8248 98% .

ITPRIP 1648 100% .

ITPRIPL1 5102 100% .

ITPRIPL2 1612 94% .

ITSN1 5328 100% .

ITSN2 5478 100% .

IVD 1329 100% Isovaleric Acidemia

IVD 1329 100% Choriodal Dystrophy, Central Areolar 2

IVL 1762 56% .

IVNS1ABP 1981 100% .

IWS1 2516 99% .

IYD 1431 100% Congenital Hypothyroidism, IYD-Related

IYD 1431 100% Congenital Hypothyroidism

IZUMO1 1089 100% .

IZUMO2 694 96% .

IZUMO4 739 100% .

JAG1 3761 98% JAG1-Related Alagille Syndrome

JAG1 3761 98% Isolated Nonsyndromic Congenital Heart Disease/Defects

JAG1 3761 98% Alagille Syndrome

JAG1 3761 98% Choriodal Dystrophy, Central Areolar 2

JAG2 3821 78% .

JAGN1 560 96% .

JAK1 3561 100% .

JAK2 3491 100% Budd-Chiari Syndrome

JAK2 3491 100% JAK2-Related Budd-Chiari Syndrome

JAK3 3467 84% Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell -Positive, NK Cell-Negative, JAK3-Related

JAKMIP1 2829 95% .

JAKMIP2 2513 100% .

JAKMIP3 2619 98% .

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JAM2 937 94% .

JAM3 1104 91% .

JARID2 3813 99% .

JAZF1 752 100% .

JDP2 769 95% .

JHDM1D 2906 100% .

JKAMP 1060 100% .

JMJD1C 8074 100% .

JMJD4 1655 94% .

JMJD5 1930 95% .

JMJD6 1413 100% .

JMJD7 983 98% .

JMJD7-PLA2G4B 3355 99% .

JMJD8 894 78% .

JMY 3007 79% .

JOSD1 625 100% .

JOSD2 583 85% .

JPH1 2006 100% .

JPH2 2126 67% .

JPH3 2267 84% Huntington Disease-Like 2

JPH3 2267 84% Choriodal Dystrophy, Central Areolar 2

JPH4 1907 59% .

JRK 3520 59% .

JRKL 1579 85% .

JSRP1 1020 76% .

JTB 461 100% .

JUN 1000 100% .

JUNB 1048 82% .

JUND 1048 50% .

JUP 2290 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

JUP 2290 97% Naxos Disease

JUP 2290 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy12

JUP 2290 97% Choriodal Dystrophy, Central Areolar 2

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KAAG1 441 100% .

KAL1 2099 93% Kallmann Syndrome 1

KAL1 2099 93% Kallmann Syndrome

KAL1 2099 93% Choriodal Dystrophy, Central Areolar 2

KALRN 9357 99% .

KANK1 6768 100% .

KANK2 2755 99% .

KANK3 2506 48% .

KANK4 3024 100% .

KANSL2 1515 100% .

KANSL3 2892 98% .

KARS 2000 100% KARS-Related Intermediate Charcot-Marie-Tooth Neuropathy

KAT2A 2586 87% .

KAT2B 2571 95% .

KAT5 2057 86% .

KAT6A 6079 100% .

KAT6B 6286 100% KAT6B-Related Disorders

KAT7 1896 100% .

KAT8 1764 87% .

KATNA1 1719 100% .

KATNAL1 1513 100% .

KATNAL2 1457 100% .

KATNB1 2044 94% .

KAZALD1 931 99% .

KAZN 3012 91% .

KBTBD10 1845 100% .

KBTBD11 1876 15% .

KBTBD12 1892 100% .

KBTBD13 1381 42% Nemaline Myopathy

KBTBD13 1381 42% KBTBD13-Related Nemaline Myopathy

KBTBD2 1884 100% .

KBTBD3 1847 100% .

KBTBD4 2243 100% .

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KBTBD5 1890 99% .

KBTBD6 2029 100% .

KBTBD7 2059 100% .

KBTBD8 1822 99% .

KCMF1 1174 98% .

KCNA1 1492 100% Episodic Ataxia Type 1

KCNA1 1492 100% Choriodal Dystrophy, Central Areolar 2

KCNA1 1492 100% Myokymia 1 with or without Hypomagnesemia

KCNA10 1540 100% .

KCNA2 3008 100% .

KCNA3 1732 96% .

KCNA4 1966 100% .

KCNA5 1846 90% Familial Atrial Fibrillation

KCNA5 1846 90% KCNA5-Related Familial Atrial Fibrillation

KCNA6 1594 100% .

KCNA7 1379 95% .

KCNAB1 1787 100% .

KCNAB2 1164 84% .

KCNAB3 1271 87% .

KCNB1 2585 97% .

KCNB2 2744 100% .

KCNC1 2776 90% .

KCNC2 1999 100% .

KCNC3 2290 66% Spinocerebellar Ataxia Type13

KCNC4 1990 98% .

KCND1 1968 88% .

KCND2 1917 100% .

KCND3 1996 97% .

KCNE1 394 100% Romano-Ward Syndrome

KCNE1 394 100% Jervell and Lange-Nielsen Syndrome

KCNE1 394 100% Long QT Syndrome 5

KCNE1L 433 75% .

KCNE2 376 100% Romano-Ward Syndrome

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KCNE2 376 100% Long QT Syndrome 6

KCNE2 376 100% Familial Atrial Fibrillation

KCNE2 376 100% KCNE2-Related Familial Atrial Fibrillation

KCNE3 316 100% Brugada Syndrome

KCNE3 316 100% KCNE3-Related Hypokalemic Periodic Paralysis

KCNE3 316 100% Brugada Syndrome 6

KCNE4 517 100% .

KCNF1 1489 99% .

KCNG1 1550 91% .

KCNG2 1409 88% .

KCNG3 1988 89% .

KCNG4 1568 100% .

KCNH1 3492 100% .

KCNH2 4447 73% Romano-Ward Syndrome

KCNH2 4447 73% Long QT Syndrome 2

KCNH2 4447 73% Short QT Syndrome

KCNH2 4447 73% Short QT Syndrome 1

KCNH2 4447 73% Choriodal Dystrophy, Central Areolar 2

KCNH3 3312 98% .

KCNH4 3118 93% .

KCNH5 4125 100% .

KCNH6 3849 100% .

KCNH7 3991 100% .

KCNH8 3388 100% .

KCNIP1 812 100% .

KCNIP2 1372 81% .

KCNIP3 914 98% .

KCNIP4 1182 100% .

KCNJ1 2328 100% Antenatal Bartter Syndrome Type 2

KCNJ10 1144 100% Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome

KCNJ10 1144 100% KCNJ10-Related Pendred Syndrome

KCNJ10 1144 100% Pendred Syndrome/DFNB4

KCNJ11 2354 100% Familial Hyperinsulinism

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KCNJ11 2354 100% KCNJ11-Related Hyperinsulinism

KCNJ11 2354 100% Permanent Neonatal Diabetes Mellitus

KCNJ11 2354 100% Diabetes Mellitus, KCNJ11-Related Transient Neonatal

KCNJ11 2354 100% KCNJ11-Related Permanent Neonatal Diabetes Mellitus

KCNJ11 2354 100% KCNJ11-Related Susceptibility to Noninsulin-Dependent Diabetes Mellitus

KCNJ11 2354 100% Choriodal Dystrophy, Central Areolar 2

KCNJ12 1306 100% .

KCNJ13 2646 100% Leber Congenital Amaurosis

KCNJ13 2646 100% KCNJ13-Related Leber Congenital Amaurosis

KCNJ14 1319 71% .

KCNJ15 1132 100% .

KCNJ16 1261 100% .

KCNJ18 1306 100% .

KCNJ2 1288 100% Andersen Syndrome Type 1

KCNJ2 1288 100% Andersen-Tawil Syndrome

KCNJ2 1288 100% Short QT Syndrome

KCNJ2 1288 100% Short QT Syndrome 3

KCNJ2 1288 100% KCNJ2-Related Familial Atrial Fibrillation

KCNJ2 1288 100% Choriodal Dystrophy, Central Areolar 2

KCNJ3 1518 100% .

KCNJ4 1342 100% .

KCNJ5 1268 100% Romano-Ward Syndrome

KCNJ5 1268 100% Long QT Syndrome 13

KCNJ5 1268 100% Hyperaldosteronism, Familial, Type III

KCNJ6 1284 100% .

KCNJ8 1283 100% .

KCNJ9 1190 80% .

KCNK1 1023 99% .

KCNK10 1757 100% .

KCNK12 1301 63% .

KCNK13 1235 78% .

KCNK15 1001 88% .

KCNK16 2001 86% .

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KCNK17 1151 75% .

KCNK18 1167 100% .

KCNK2 1352 100% .

KCNK3 1193 88% .

KCNK4 1206 83% .

KCNK5 1520 97% .

KCNK6 954 87% .

KCNK7 1496 97% .

KCNK9 1133 100% Birk-Barel Mental Retardation Dysmorphism Syndrome

KCNMA1 4249 99% Generalized Epilepsy and Paroxysmal Dyskinesia

KCNMB1 588 100% .

KCNMB2 724 100% .

KCNMB3 1309 100% .

KCNMB4 645 100% .

KCNN1 1668 97% .

KCNN2 1918 100% .

KCNN3 2250 100% .

KCNN4 1316 100% .

KCNQ1 2095 85% Romano-Ward Syndrome

KCNQ1 2095 85% Jervell and Lange-Nielsen Syndrome

KCNQ1 2095 85% Beckwith-Wiedemann Syndrome

KCNQ1 2095 85% Long QT Syndrome 1

KCNQ1 2095 85% Familial Atrial Fibrillation

KCNQ1 2095 85% Short QT Syndrome

KCNQ1 2095 85% Short QT Syndrome 2

KCNQ1 2095 85% KCNQ1-Related Familial Atrial Fibrillation

KCNQ1 2095 85% Choriodal Dystrophy, Central Areolar 2

KCNQ2 3252 87% Benign Familial Neonatal Seizures

KCNQ2 3252 87% Benign Neonatal Epilepsy 1

KCNQ2 3252 87% Epileptic Encephalopathy, Early Infantile, 7

KCNQ3 2679 94% Benign Familial Neonatal Seizures

KCNQ3 2679 94% Benign Neonatal Epilepsy 2

KCNQ4 2144 87% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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KCNQ4 2144 87% DFNA 2 Nonsyndromic Hearing Loss

KCNQ5 2916 93% .

KCNRG 1174 91% .

KCNS1 1593 77% .

KCNS2 1438 100% .

KCNS3 1480 100% .

KCNT1 3832 86% .

KCNT2 3520 100% .

KCNU1 3558 100% .

KCNV1 1515 92% .

KCNV2 1646 99% Retinal Cone Dystrophy 3B

KCP 5611 33% .

KCTD1 2801 36% .

KCTD10 970 100% .

KCTD11 703 100% .

KCTD12 982 85% .

KCTD13 1014 99% .

KCTD14 776 100% .

KCTD15 888 72% .

KCTD16 1295 100% .

KCTD17 926 77% .

KCTD18 1305 100% .

KCTD19 2845 100% .

KCTD2 816 82% .

KCTD20 1288 100% .

KCTD21 787 100% .

KCTD3 2520 97% .

KCTD4 784 100% .

KCTD5 729 86% .

KCTD6 722 100% .

KCTD7 1272 94% Progressive Myoclonic Epilepsy 3

KCTD8 1430 99% .

KCTD9 1218 100% .

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KDELC1 1549 100% .

KDELC2 1556 88% .

KDELR1 659 81% .

KDELR2 1048 100% .

KDELR3 1040 100% .

KDM1A 2715 92% .

KDM1B 1837 100% .

KDM2A 3569 100% .

KDM2B 4378 99% .

KDM3A 4066 100% .

KDM3B 5382 96% .

KDM4A 3279 100% .

KDM4B 3375 86% .

KDM4C 3909 98% .

KDM4D 1576 100% .

KDM4DL 1525 63% .

KDM5A 5185 100% .

KDM5B 4743 100% .

KDM5C 5172 95% X-Linked Syndromic Mental Retardation, Claes-Jensen Type

KDM5D 4821 95% .

KDM6A 4322 98% .

KDM6B 5125 91% .

KDR 4191 100% .

KDSR 1039 100% .

KEAP1 1895 97% .

KEL 2275 99% .

KERA 1067 100% .

KHDC1 623 100% .

KHDC1L 399 100% .

KHDRBS1 1368 84% .

KHDRBS2 1086 100% .

KHDRBS3 1077 98% .

KHK 1068 94% Fructosuria, Essential

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KHNYN 2065 99% .

KHSRP 2216 77% .

KIAA0020 2015 100% .

KIAA0040 304 0% .

KIAA0090 3074 100% .

KIAA0100 6864 100% .

KIAA0101 452 100% .

KIAA0141 1596 99% .

KIAA0146 2828 81% .

KIAA0182 3922 94% .

KIAA0195 4195 100% .

KIAA0196 3592 100% Spastic Paraplegia 8

KIAA0226 3206 98% .

KIAA0226L 2041 100% .

KIAA0232 4220 100% .

KIAA0240 3284 100% .

KIAA0247 932 100% .

KIAA0284 4963 83% .

KIAA0317 2544 100% .

KIAA0319 4442 99% .

KIAA0319L 3230 100% .

KIAA0355 3265 99% .

KIAA0368 6258 96% .

KIAA0391 1780 100% .

KIAA0408 2105 100% .

KIAA0415 2492 90% .

KIAA0430 6197 100% .

KIAA0494 1532 100% .

KIAA0513 1284 99% .

KIAA0528 3099 100% .

KIAA0556 4969 99% .

KIAA0564 6062 97% .

KIAA0586 5355 100% .

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KIAA0664 4030 93% .

KIAA0748 1602 100% .

KIAA0753 2976 98% .

KIAA0754 4288 96% .

KIAA0825 4588 90% .

KIAA0889 6692 82% .

KIAA0895 2604 100% .

KIAA0895L 1440 84% .

KIAA0907 1901 100% .

KIAA0913 6315 99% .

KIAA0922 5074 96% .

KIAA0930 1338 92% .

KIAA0947 6877 99% .

KIAA1009 4316 100% .

KIAA1024 2763 100% .

KIAA1033 3654 98% .

KIAA1045 1231 99% .

KIAA1107 4097 100% .

KIAA1109 15354 100% .

KIAA1143 477 100% .

KIAA1147 1404 81% .

KIAA1161 2149 100% .

KIAA1191 1129 100% .

KIAA1199 4198 99% .

KIAA1210 5186 100% .

KIAA1211 3734 87% .

KIAA1217 6204 100% .

KIAA1239 5257 99% .

KIAA1244 6670 99% .

KIAA1257 1258 100% .

KIAA1267 3503 99% .

KIAA1274 2647 97% .

KIAA1279 1894 100% Goldberg-Shprintzen Megacolon Syndrome

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KIAA1324 3130 99% .

KIAA1324L 3303 91% .

KIAA1328 1774 97% .

KIAA1377 3398 100% .

KIAA1383 3148 100% .

KIAA1407 2879 100% .

KIAA1429 6192 100% .

KIAA1430 1615 100% .

KIAA1432 4574 100% .

KIAA1456 2418 100% .

KIAA1462 4092 100% .

KIAA1467 1921 98% .

KIAA1468 3767 97% .

KIAA1522 3375 91% .

KIAA1524 2802 100% .

KIAA1530 2182 98% .

KIAA1549 6192 97% .

KIAA1586 2380 91% .

KIAA1598 2191 100% .

KIAA1609 1399 100% .

KIAA1614 3609 94% .

KIAA1644 616 100% .

KIAA1671 5461 18% .

KIAA1683 10452 100% .

KIAA1704 1055 100% .

KIAA1715 1335 100% .

KIAA1731 7922 100% .

KIAA1737 1212 100% .

KIAA1751 2357 100% .

KIAA1755 3659 99% .

KIAA1797 5578 100% .

KIAA1804 3151 82% .

KIAA1826 1046 100% .

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KIAA1841 2337 100% .

KIAA1919 1573 98% .

KIAA1958 2163 100% .

KIAA1967 2852 95% .

KIAA1984 1661 83% .

KIAA2013 1917 77% .

KIAA2018 6758 100% .

KIAA2022 4563 100% KIAA2022-Related X-Linked Mental Retardation

KIAA2026 6344 100% .

KIDINS220 5432 100% .

KIF11 3259 100% .

KIF12 1598 87% .

KIF13A 6440 100% .

KIF13B 5641 92% .

KIF14 5063 100% .

KIF15 4307 100% .

KIF16B 4058 100% .

KIF17 3225 97% .

KIF18A 2761 100% .

KIF18B 2628 100% .

KIF19 3077 93% .

KIF1A 5257 94% Hereditary Sensory and Autonomic Neuropathy Type II

KIF1A 5257 94% Hereditary Sensory and Autonomic Neuropathy Type IIC

KIF1A 5257 94% Mental Retardation, Autosomal Dominant 9

KIF1A 5257 94% Spastic Paraplegia 30

KIF1B 6986 100% Charcot-Marie-Tooth Neuropathy Type 2

KIF1B 6986 100% Charcot-Marie-Tooth Neuropathy Type 2A1

KIF1B 6986 100% Charcot-Marie-Tooth Neuropathy Type 2A

KIF1B 6986 100% Neuroblastoma, Susceptibility

KIF1B 6986 100% KIF1B-Related Neuroblastoma, Susceptibility

KIF1B 6986 100% KIF1B-Related Pheochromocytoma

KIF1C 3396 97% .

KIF20A 2745 100% .

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KIF20B 5471 100% .

KIF21A 5177 99% Congenital Fibrosis of the Extraocular Muscles

KIF21A 5177 99% KIF21A-Related Congenital Fibrosis of the Extraocular Muscles

KIF21B 5011 99% .

KIF22 2254 98% .

KIF23 2975 100% .

KIF24 4155 100% .

KIF25 1187 85% .

KIF26A 5709 72% .

KIF26B 6387 91% .

KIF27 4274 100% .

KIF2A 2446 97% .

KIF2B 2026 100% .

KIF2C 2262 100% .

KIF3A 2168 100% .

KIF3B 2276 100% .

KIF3C 2414 100% .

KIF4A 3819 99% .

KIF4B 3709 100% .

KIF5A 3211 100% Spastic Paraplegia 10

KIF5B 2992 100% .

KIF5C 2974 97% .

KIF6 2537 98% .

KIF7 4104 82% Joubert Syndrome and Related Disorders

KIF7 4104 82% KIF7-Related Joubert Syndrome

KIF7 4104 82% Acrocallosal Syndrome

KIF9 2453 100% .

KIFAP3 2595 100% .

KIFC1 2066 100% .

KIFC2 2585 81% .

KIFC3 2731 89% .

KIN 1234 100% .

KIR2DL1 1079 96% .

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KIR2DL3 1058 90% .

KIR2DL4 1222 66% .

KIR2DS4 925 77% .

KIR3DL1 1371 91% .

KIR3DL2 1404 76% .

KIR3DL3 1265 53% .

KIRREL 2334 98% .

KIRREL2 2999 97% .

KIRREL3 2731 98% .

KISS1 425 81% .

KISS1R 1217 40% Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

KISS1R 1217 40% KISS1R-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

KISS1R 1217 40% Central Precocious Puberty

KIT 3213 100% Gastrointestinal Stromal Tumor

KIT 3213 100% Piebald Trait, KIT-Related

KIT 3213 100% Mast Cell Disease

KIT 3213 100% Choriodal Dystrophy, Central Areolar 2

KITLG 858 100% .

KL 3059 95% Hyperphosphatemic Familial Tumoral Calcinosis, KL-Related

KLB 3155 100% .

KLC1 2031 98% .

KLC2 1929 100% .

KLC3 1563 69% .

KLC4 2495 100% .

KLF1 1101 54% .

KLF10 1466 100% .

KLF11 1829 97% Maturity-Onset Diabetes of the Young Type 7

KLF12 1237 100% .

KLF13 875 48% .

KLF14 976 51% .

KLF15 1259 88% .

KLF16 767 27% .

KLF17 1182 100% .

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KLF2 1080 33% .

KLF3 1058 100% .

KLF4 1460 90% .

KLF5 1390 81% .

KLF6 1502 100% .

KLF7 925 100% .

KLF8 1290 99% .

KLF9 743 99% .

KLHDC1 1273 99% .

KLHDC10 1369 89% .

KLHDC2 1273 99% .

KLHDC3 1189 100% .

KLHDC4 1607 95% .

KLHDC5 1530 93% .

KLHDC7A 2338 100% .

KLHDC7B 1789 82% .

KLHDC8A 1073 100% .

KLHDC8B 1085 98% .

KLHDC9 1307 93% .

KLHL1 2291 100% .

KLHL10 1847 100% .

KLHL11 2135 99% .

KLHL12 1751 95% .

KLHL13 2395 89% .

KLHL14 1919 100% .

KLHL15 1823 100% .

KLHL17 1977 85% .

KLHL18 1765 95% .

KLHL2 2010 96% .

KLHL20 1874 100% .

KLHL21 1810 64% .

KLHL22 1929 100% .

KLHL23 1689 100% .

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KLHL24 1827 100% .

KLHL25 1774 100% .

KLHL26 1860 95% .

KLHL28 1732 100% .

KLHL29 2676 92% .

KLHL3 1824 100% Pseudohypoaldosteronism Type IID

KLHL30 1765 92% .

KLHL31 1913 100% .

KLHL32 1903 100% .

KLHL33 1614 95% .

KLHL34 1939 65% .

KLHL35 1776 48% .

KLHL36 1867 95% .

KLHL38 1758 100% .

KLHL4 2271 100% .

KLHL5 3024 100% .

KLHL6 1894 100% .

KLHL7 1975 100% Retinitis Pigmentosa, Autosomal Dominant

KLHL7 1975 100% Retinitis Pigmentosa

KLHL7 1975 100% KLHL7-Related Retinitis Pigmentosa

KLHL8 1899 100% .

KLHL9 1858 100% .

KLK1 809 100% .

KLK10 851 79% .

KLK11 1533 92% .

KLK12 1149 94% .

KLK13 854 93% .

KLK14 828 75% .

KLK15 1236 96% .

KLK2 1472 99% .

KLK3 1360 100% .

KLK4 785 92% Amelogenesis Imperfecta, Hypomaturation Type, IIA1

KLK5 902 100% .

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KLK6 1007 100% .

KLK7 1011 85% .

KLK8 1397 98% .

KLK9 773 95% .

KLKB1 1973 100% .

KLLN 541 0% .

KLRB1 702 100% .

KLRC1 726 100% .

KLRC2 720 100% .

KLRC3 1038 86% .

KLRC4 493 100% .

KLRC4-KLRK1 679 100% .

KLRD1 564 100% .

KLRF1 723 100% .

KLRF2 648 0% .

KLRG1 590 100% .

KLRG2 1250 63% .

KLRK1 679 100% .

KMO 1521 100% .

KNCN 318 82% .

KNDC1 5370 84% .

KNG1 2874 100% .

KNTC1 6882 99% .

KPNA1 1669 100% .

KPNA2 1630 100% .

KPNA3 1634 100% .

KPNA4 1634 100% .

KPNA5 1676 100% .

KPNA6 1667 100% .

KPNA7 1591 100% .

KPNB1 2719 99% .

KPRP 1744 100% .

KPTN 1359 85% .

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KRAS 707 100% Cardiofaciocutaneous Syndrome

KRAS 707 100% Noonan Syndrome

KRAS 707 100% KRAS-Related Noonan Syndrome

KRAS 707 100% KRAS-Related Cardiofaciocutaneous Syndrome

KRBA1 3156 97% .

KRBA2 1487 100% .

KRCC1 784 100% .

KREMEN1 1918 95% .

KREMEN2 1798 47% .

KRI1 2206 93% .

KRIT1 2275 100% Familial Cerebral Cavernous Malformation

KRIT1 2275 100% Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

KRIT1 2275 100% Familial Cerebral Cavernous Malformation 1

KRIT1 2275 100% Choriodal Dystrophy, Central Areolar 2

KRR1 1186 100% .

KRT1 1971 100% KRT1-Related Epidermolytic Hyperkeratosis

KRT1 1971 100% Nonepidermolytic Palmoplantar Hyperkeratosis

KRT1 1971 100% Choriodal Dystrophy, Central Areolar 2

KRT10 1787 96% KRT10-Related Epidermolytic Hyperkeratosis


KRT12 1517 100% .

KRT13 1520 87% White Sponge Nevus of Cannon, KRT13-Related


KRT14 1451 93% Epidermolysis Bullosa Simplex, Dowling-Meara Type

KRT14 1451 93% Epidermolysis Bullosa Simplex, Other Generalized

KRT14 1451 93% Epidermolysis Bullosa Simplex, Localized

KRT14 1451 93% Epidermolysis Bullosa Simplex


KRT15 1403 100% .

KRT16 1454 100% Pachyonychia Congenita Type 1

KRT16 1454 100% Nonepidermolytic Palmoplantar Hyperkeratosis

KRT16 1454 100% Pachyonychia Congenita

KRT16 1454 100% KRT16-Related Pachyonychia Congenita

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KRT17 1331 100% Steatocystoma Multiplex

KRT17 1331 100% Pachyonychia Congenita Type 2

KRT17 1331 100% Pachyonychia Congenita

KRT17 1331 100% KRT17-Related Pachyonychia Congenita


KRT18 1321 99% .

KRT19 1227 100% .

KRT2 1956 100% Ichthyosis Bullosa of Siemens


KRT20 1307 100% .

KRT222 912 100% .

KRT23 1301 100% .

KRT24 1610 100% .

KRT25 1385 100% .

KRT26 1439 100% .

KRT27 1412 100% .

KRT28 1427 100% .

KRT3 1923 85% .

KRT31 1279 100% .

KRT32 1375 100% .

KRT33A 1243 100% .

KRT33B 1243 100% .

KRT34 1339 100% .

KRT35 1396 100% .

KRT36 1432 100% .

KRT37 1378 100% .

KRT38 1399 99% .

KRT39 1504 100% .

KRT4 1821 100% White Sponge Nevus of Cannon, KRT4-Related


KRT40 1324 100% .

KRT5 1809 100% Epidermolysis Bullosa Simplex, Dowling-Meara Type

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KRT5 1809 100% Epidermolysis Bullosa Simplex, Other Generalized

KRT5 1809 100% Epidermolysis Bullosa Simplex, Localized

KRT5 1809 100% Epidermolysis Bullosa Simplex with Mottled Pigmentation

KRT5 1809 100% Epidermolysis Bullosa Simplex

KRT5 1809 100% Epidermolysis Bullosa Simplex with Migratory Circinate Erythema


KRT6A 1731 100% Pachyonychia Congenita Type 1

KRT6A 1731 100% Pachyonychia Congenita

KRT6A 1731 100% KRT6A-Related Pachyonychia Congenita

KRT6A 1731 100% Choriodal Dystrophy, Central Areolar 2

KRT6B 1731 100% Pachyonychia Congenita Type 2

KRT6B 1731 100% Pachyonychia Congenita

KRT6B 1731 100% KRT6B-Related Pachyonychia Congenita

KRT6B 1731 100% Choriodal Dystrophy, Central Areolar 2

KRT6C 1731 99% .

KRT7 1446 100% .

KRT71 1608 100% .

KRT72 1572 92% .

KRT73 1659 100% .

KRT74 1626 100% .

KRT75 1692 100% .

KRT76 1953 96% .

KRT77 1773 99% .

KRT78 1599 100% .

KRT79 1644 100% .

KRT8 1812 100% .

KRT80 1594 96% .

KRT81 1554 61% Monilethrix

KRT82 1578 100% .


KRT84 1839 88% .

KRT85 1560 100% .


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KRT9 1900 96% Epidermolytic Palmoplantar Keratoderma


KRTAP10-1 853 100% .

KRTAP10-10 760 100% .

KRTAP10-11 901 100% .

KRTAP10-12 742 100% .

KRTAP10-2 772 100% .

KRTAP10-3 670 100% .

KRTAP10-4 1210 100% .

KRTAP10-5 820 100% .

KRTAP10-6 1102 100% .

KRTAP10-7 1121 100% .

KRTAP10-8 784 100% .

KRTAP10-9 883 100% .

KRTAP1-1 538 100% .

KRTAP11-1 496 100% .

KRTAP12-1 295 100% .

KRTAP12-2 445 100% .

KRTAP12-3 295 100% .

KRTAP12-4 343 94% .

KRTAP1-3 508 100% .

KRTAP13-1 523 100% .

KRTAP13-2 532 100% .

KRTAP13-3 523 100% .

KRTAP13-4 487 100% .

KRTAP1-5 529 100% .

KRTAP15-1 418 100% .

KRTAP16-1 1558 99% .

KRTAP17-1 322 98% .

KRTAP19-1 277 100% .

KRTAP19-2 163 100% .

KRTAP19-3 250 100% .

KRTAP19-4 259 100% .

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KRTAP19-5 223 100% .

KRTAP19-6 181 100% .

KRTAP19-7 196 100% .

KRTAP19-8 196 100% .

KRTAP20-1 175 100% .

KRTAP20-2 202 100% .

KRTAP20-3 139 100% .

KRTAP2-1 391 11% .

KRTAP21-1 244 100% .

KRTAP21-2 256 100% .

KRTAP21-3 181 100% .

KRTAP2-2 376 1% .

KRTAP22-1 151 100% .

KRTAP22-2 142 100% .

KRTAP23-1 202 100% .

KRTAP2-4 391 8% .

KRTAP24-1 769 100% .

KRTAP25-1 313 100% .

KRTAP26-1 637 100% .

KRTAP27-1 628 100% .

KRTAP3-1 301 100% .

KRTAP3-2 301 100% .

KRTAP3-3 301 100% .

KRTAP4-1 392 100% .

KRTAP4-11 592 100% .

KRTAP4-12 610 100% .

KRTAP4-2 415 100% .

KRTAP4-3 592 100% .

KRTAP4-4 505 100% .

KRTAP4-5 550 100% .

KRTAP4-7 472 100% .

KRTAP4-8 562 100% .

KRTAP4-9 637 100% .

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KRTAP5-1 841 100% .

KRTAP5-10 613 100% .

KRTAP5-11 475 100% .

KRTAP5-2 538 100% .

KRTAP5-3 721 100% .

KRTAP5-4 691 100% .

KRTAP5-5 718 100% .

KRTAP5-6 394 100% .

KRTAP5-7 502 100% .

KRTAP5-8 568 100% .

KRTAP5-9 514 100% .

KRTAP6-1 220 100% .

KRTAP6-2 193 100% .

KRTAP6-3 337 100% .

KRTAP7-1 538 0% .

KRTAP8-1 196 100% .

KRTAP9-1 757 100% .

KRTAP9-2 529 100% .

KRTAP9-3 484 100% .

KRTAP9-4 469 100% .

KRTAP9-8 484 100% .

KRTAP9-9 514 100% .

KRTCAP2 509 99% .

KRTCAP3 747 95% .

KRTDAP 324 100% .

KSR1 2361 100% .

KSR2 2846 100% .

KTI12 1069 100% .

KTN1 4255 100% .

KXD1 547 99% .

KY 2030 100% .

KYNU 1476 100% .

L1CAM 3886 99% L1 Syndrome

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L1CAM 3886 99% Choriodal Dystrophy, Central Areolar 2

L1TD1 2606 65% .

L2HGDH 1432 98% L-2-Hydroxyglutaric Aciduria

L3MBTL1 2933 92% .

L3MBTL2 2186 100% .

L3MBTL3 2427 98% .

L3MBTL4 1944 100% .

LACC1 1313 100% .

LACE1 1498 100% .

LACRT 437 100% .

LACTB 1846 82% .

LACTB2 895 99% .

LAD1 1594 97% .

LAG3 1610 84% .

LAGE3 444 69% .

LAIR1 904 100% .

LAIR2 479 100% .

LALBA 445 98% .

LAMA1 9480 100% .

LAMA2 9629 99% LAMA2-Related Muscular Dystrophy

LAMA2 9629 99% Congenital Muscular Dystrophy

LAMA2 9629 99% Choriodal Dystrophy, Central Areolar 2

LAMA3 10477 97% LAMA3-Related Junctional Epidermolysis Bullosa

LAMA3 10477 97% Junctional Epidermolysis Bullosa

LAMA3 10477 97% Laryngoonychocutaneous Syndrome

LAMA3 10477 97% Choriodal Dystrophy, Central Areolar 2

LAMA4 6259 100% .

LAMA5 11408 83% .

LAMB1 5493 100% .

LAMB2 5525 100% Pierson Syndrome

LAMB2 5525 100% Nephrotic Syndrome, Type 5, with or without Ocular Abnormalities

LAMB3 3607 99% LAMB3-Related Junctional Epidermolysis Bullosa

LAMB3 3607 99% Junctional Epidermolysis Bullosa

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LAMB3 3607 99% Choriodal Dystrophy, Central Areolar 2

LAMB4 5418 100% .

LAMC1 4942 99% .

LAMC2 3794 100% LAMC2-Related Junctional Epidermolysis Bullosa

LAMC2 3794 100% Junctional Epidermolysis Bullosa

LAMC2 3794 100% Choriodal Dystrophy, Central Areolar 2

LAMC3 4840 89% .

LAMP1 1290 95% .

LAMP2 1560 100% Danon Disease

LAMP2 1560 100% LAMP2-Related Familial Hypertrophic Cardiomyopathy

LAMP3 1275 96% .

LAMP5 867 100% .

LAMTOR1 506 75% .

LAMTOR2 394 100% .

LAMTOR3 537 100% .

LANCL1 1236 100% .

LANCL2 1389 88% .

LANCL3 1351 77% .

LAP3 1612 97% .

LAPTM4A 730 100% .

LAPTM4B 982 93% .

LAPTM5 821 99% .

LARGE 2327 100% Congenital Muscular Dystrophy

LARGE 2327 100% LARGE-Related Muscle Diseases

LARGE 2327 100% LARGE-Related Walker-Warburg Syndrome

LARP1 3136 100% .

LARP1B 3631 100% .

LARP4 2616 100% .

LARP4B 2285 100% .

LARP6 1574 87% .

LARP7 1797 100% .

LARS 3659 100% .

LARS2 2792 100% .

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LAS1L 2261 89% .

LASP1 814 86% .

LAT 1514 95% .

LAT2 776 93% .

LATS1 3421 100% .

LATS2 3295 90% .

LAX1 1262 100% .

LAYN 1153 92% .

LBH 330 100% .

LBP 1506 100% .

LBR 1900 100% Greenberg Dysplasia

LBX1 854 90% .

LBX2 593 100% .

LCA5 2122 100% Leber Congenital Amaurosis

LCA5 2122 100% LCA5-Related Leber Congenital Amaurosis

LCA5L 2041 100% .

LCAT 1347 88% Lecithin Cholesterol Acyltransferase Deficiency

LCAT 1347 88% Choriodal Dystrophy, Central Areolar 2

LCE1A 337 100% .

LCE1B 361 100% .

LCE1C 361 100% .

LCE1D 349 94% .

LCE1E 361 100% .

LCE1F 361 100% .

LCE2A 325 100% .

LCE2B 337 100% .

LCE2C 337 100% .

LCE2D 337 100% .

LCE3A 274 100% .

LCE3B 292 56% .

LCE3C 289 56% .

LCE3D 283 100% .

LCE3E 283 100% .

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LCE4A 304 100% .

LCE5A 361 100% .

LCE6A 247 100% .

LCK 1578 97% .

LCLAT1 1442 100% .

LCMT1 1049 100% .

LCMT2 2065 100% .

LCN1 806 100% .

LCN10 627 97% .

LCN12 603 90% .

LCN15 579 83% .

LCN2 621 100% .

LCN6 512 100% .

LCN8 487 97% .

LCN9 548 94% .

LCNL1 507 56% .

LCOR 2299 100% .

LCORL 2022 93% .

LCP1 1944 100% .

LCP2 1686 94% .

LCT 5852 100% Lactose Intolerance, Adult Type

LCT 5852 100% Lactase Deficiency, Congenital

LCT 5852 100% Congenital Lactase Deficiency

LCTL 1756 100% .

LDB1 1387 98% .

LDB2 1263 100% .

LDB3 2572 100% Dilated Cardiomyopathy

LDB3 2572 100% Myofibrillar Myopathy

LDB3 2572 100% Zaspopathy

LDB3 2572 100% LDB3-Related Dilated Cardiomyopathy

LDHA 2017 97% Glycogen Storage Disease XI

LDHA 2017 97% Choriodal Dystrophy, Central Areolar 2

LDHAL6A 1027 100% .

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LDHAL6B 1150 100% .

LDHB 1033 100% Lactate Dehydrogenase B Deficiency

LDHB 1033 100% Choriodal Dystrophy, Central Areolar 2

LDHC 1027 100% .

LDHD 1841 92% .

LDLR 3207 100% Familial Hypercholesterolemia

LDLR 3207 100% Choriodal Dystrophy, Central Areolar 2

LDLRAD1 642 81% .

LDLRAD2 839 89% .

LDLRAD3 1062 95% .

LDLRAP1 963 90% Familial Hypercholesterolemia, Autosomal Recessive

LDOC1 445 100% .

LDOC1L 724 100% .

LEAP2 246 100% .

LECT1 1253 100% .

LECT2 472 100% .

LEF1 1341 99% .

LEFTY1 1117 87% .

LEFTY2 1619 94% Heterotaxy Syndrome

LEFTY2 1619 94% LEFTY2-Related Visceral Heterotaxy

LEKR1 2147 56% .

LELP1 301 100% .

LEMD1 769 100% .

LEMD2 1629 78% .

LEMD3 2830 85% Buschke-Ollendorff Syndrome

LENEP 190 100% .

LENG1 811 98% .

LENG8 2463 94% .

LENG9 1510 76% .

LEO1 2049 100% .

LEP 512 100% Leptin Deficiency

LEP 512 100% Monogenic Non-Syndromic Obesity, Autosomal Recessive

LEPR 3852 95% Leptin Receptor Deficiency

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LEPR 3852 95% Monogenic Non-Syndromic Obesity, Autosomal Recessive

LEPRE1 2778 99% LEPRE1-Related Osteogenesis Imperfecta

LEPREL1 2344 85% .

LEPREL2 2270 77% .

LEPREL4 1346 86% .

LEPROT 485 81% .

LEPROTL1 647 61% .

LETM1 2276 96% .

LETM2 1519 100% .

LETMD1 1239 100% .

LEUTX 515 95% .

LFNG 1465 81% LFNG-Related Spondylocostal Dysostosis, Autosomal Recessive

LFNG 1465 81% Spondylocostal Dysostosis

LFNG 1465 81% Spondylocostal Dysostosis, Autosomal Recessive

LGALS1 424 97% .

LGALS12 1364 100% .

LGALS13 436 100% .

LGALS14 542 100% .

LGALS16 445 98% .

LGALS2 415 100% .

LGALS3 1030 100% .

LGALS3BP 1778 97% .

LGALS4 1012 100% .

LGALS7 427 27% .

LGALS7B 427 48% .

LGALS8 1120 100% .

LGALS9 1112 100% .

LGALS9B 1112 81% .

LGALS9C 1115 88% .

LGALSL 539 95% .

LGI1 1706 100% Autosomal Dominant Partial Epilepsy with Auditory Features

LGI2 1670 90% .

LGI3 1679 94% .

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LGI4 1650 52% .

LGMN 1354 100% .

LGR4 2928 94% .

LGR5 2796 100% .

LGR6 3123 96% .

LGSN 3954 100% .

LHB 438 100% .

LHCGR 2144 92% Male-Limited Precocious Puberty

LHCGR 2144 92% Leydig Cell Hypoplasia/Agenesis

LHCGR 2144 92% LH Receptor Defects

LHCGR 2144 92% Hypergonadotropic Hypogonadism

LHCGR 2144 92% Choriodal Dystrophy, Central Areolar 2

LHFP 615 100% .

LHFPL1 675 100% .

LHFPL2 695 100% .

LHFPL3 723 100% .

LHFPL4 756 100% .

LHFPL5 672 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

LHFPL5 672 100% DFNB67 Nonsyndromic Hearing Loss and Deafness

LHPP 942 82% .

LHX1 1241 90% .

LHX2 1241 89% .

LHX3 1316 77% LHX3-Related Combined Pituitary Hormone Deficiency

LHX4 1197 100% LHX4-Related Combined Pituitary Hormone Deficiency

LHX5 1229 69% .

LHX6 1663 71% .

LHX8 1198 85% .

LHX9 1424 100% .

LIAS 1220 100% .

LIF 621 96% .

LIFR 3370 100% Stuve-Wiedemann Syndrome

LIG1 2868 92% .

LIG3 3164 100% .

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LIG4 2740 100% LIG4 Syndrome

LIG4 2740 100% Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation

LILRA1 1506 100% .

LILRA2 1484 100% .

LILRA3 1655 100% .

LILRA4 1532 100% .

LILRA5 1407 100% .

LILRA6 1478 95% .

LILRB1 2233 99% .

LILRB2 1904 94% .

LILRB3 2114 78% .

LILRB4 1558 100% .

LILRB5 1883 97% .

LIM2 969 100% Cataract, Cortical Pulverulent, Late-onset

LIMA1 3021 100% .

LIMCH1 3476 98% .

LIMD1 2063 100% .

LIMD2 400 98% .

LIME1 908 72% .

LIMK1 2008 89% .

LIMK2 2394 100% .

LIMS1 1527 96% .

LIMS2 1387 80% .

LIMS3 732 0% .

LIMS3L 732 0% .

LIN28A 646 99% .

LIN28B 769 100% .

LIN37 777 100% .

LIN52 375 100% .

LIN54 2986 100% .

LIN7A 722 100% .

LIN7B 648 74% .

LIN7C 614 100% .

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LIN9 1737 100% .

LINGO1 1871 99% .

LINGO2 1825 100% .

LINGO3 1783 85% .

LINGO4 1786 98% .

LINS 2298 100% .

LIPA 1236 100% Wolman Disease

LIPA 1236 100% Lysosomal Acid Lipase Deficiency/Cholesterol Ester Storage Disease

LIPA 1236 100% Choriodal Dystrophy, Central Areolar 2

LIPC 1536 100% Hepatic Lipase Deficiency

LIPE 3271 89% .

LIPF 1590 99% .

LIPG 1543 100% .

LIPH 1396 100% .

LIPI 1486 100% .

LIPJ 1137 100% .

LIPK 1236 100% .

LIPM 1308 100% .

LIPN 1233 100% .

LIPT1 1126 100% .

LIPT2 704 33% .

LITAF 584 85% Charcot-Marie-Tooth Neuropathy Type 1

LITAF 584 85% Charcot-Marie-Tooth Neuropathy Type 1C

LIX1 873 100% .

LIX1L 1038 76% .

LLGL1 3283 95% .

LLGL2 3460 95% .

LLPH 398 100% .

LMAN1 1585 100% Factor V and Factor VIII, Combined Deficiency of

LMAN1L 1637 86% .

LMAN2 1103 100% .

LMAN2L 1116 100% .

LMBR1 1541 99% Triphalangeal Thumb-Polysyndactyly Syndrome

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LMBR1L 1538 100% .

LMBRD1 1687 100% Disorders of Intracellular Cobalamin Metabolism

LMBRD1 1687 100% cblF

LMBRD2 2156 100% .

LMCD1 1122 100% .

LMF1 1748 96% .

LMF2 2180 81% .

LMLN 2147 100% .

LMNA 2179 86% Charcot-Marie-Tooth Neuropathy Type 2

LMNA 2179 86% Dilated Cardiomyopathy

LMNA 2179 86% Familial Partial Lipodystrophy Type 2

LMNA 2179 86% Mandibuloacral Dysplasia

LMNA 2179 86% Limb-Girdle Muscular Dystrophies, Autosomal Dominant

LMNA 2179 86% Congenital Muscular Dystrophy

LMNA 2179 86% Progeroid Laminopathies

LMNA 2179 86% LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal

LMNA 2179 86% Emery-Dreifuss Muscular Dystrophy

LMNA 2179 86% Lethal Restrictive Dermopathy, LMNA-Related

LMNA 2179 86% Charcot-Marie-Tooth Neuropathy Type 2B1

LMNA 2179 86% LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant

LMNA 2179 86% LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive

LMNA 2179 86% LMNA-Related Dilated Cardiomyopathy

LMNA 2179 86% Dilated Cardiomyopathy with Quadriceps Myopathy

LMNA 2179 86% Atypical Werner Syndrome

LMNA 2179 86% Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules

LMNA 2179 86% Hutchinson-Gilford Progeria Syndrome

LMNA 2179 86% LMNA-Related Muscle Diseases

LMNA 2179 86% Choriodal Dystrophy, Central Areolar 2

LMNB1 1935 82% Leukodystrophy, Adult-Onset, Autosomal Dominant

LMNB2 1851 98% .

LMO1 487 100% .

LMO2 945 47% .

LMO3 870 100% .

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LMO4 514 100% .

LMO7 5604 100% .

LMOD1 1815 100% .

LMOD2 1656 100% .

LMOD3 1695 100% .

LMTK2 4568 98% .

LMTK3 4534 59% .

LMX1A 1181 100% .

LMX1B 1547 82% Nail-Patella Syndrome

LMX1B 1547 82% Choriodal Dystrophy, Central Areolar 2

LNP1 549 100% .

LNPEP 3995 99% .

LNX1 2323 100% .

LNX2 2109 100% .

LOC100127983 374 0% .

LOC100128071 396 0% .

LOC100129480 688 0% .

LOC100129520 2986 0% .

LOC100129636 426 21% .

LOC100130705 539 0% .

LOC100130890 306 0% .

LOC100132146 282 0% .

LOC100132247 3430 49% .

LOC100132396 923 22% .

LOC100133267 496 15% .

LOC100287177 223 0% .

LOC100287482 206 0% .

LOC100287718 685 0% .

LOC100288255 853 10% .

LOC100288524 714 18% .

LOC100288814 649 0% .

LOC100289187 682 0% .

LOC100293534 10798 20% .

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LOC100329135 340 100% .

LOC100500938 223 0% .

LOC100505478 379 0% .

LOC100505841 378 0% .

LOC100506888 3290 38% .

LOC100507003 1569 0% .

LOC100507050 1153 0% .

LOC100507055 500 57% .

LOC100507096 662 0% .

LOC100507203 332 0% .

LOC100507421 901 37% .

LOC100507588 971 0% .

LOC147646 569 0% .

LOC147670 369 0% .

LOC154872 289 0% .

LOC200726 554 98% .

LOC285033 374 99% .

LOC286238 347 100% .

LOC347411 415 0% .

LOC375190 1010 100% .

LOC388588 245 0% .

LOC388630 1582 32% .

LOC388946 671 100% .

LOC389493 298 0% .

LOC390940 864 69% .

LOC391322 380 74% .

LOC399939 2766 7% .

LOC401052 365 100% .

LOC402160 2001 0% .

LOC440563 886 100% .

LOC643037 397 0% .

LOC644100 471 0% .

LOC646498 631 100% .

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LOC646508 1396 100% .

LOC646627 244 0% .

LOC646851 1777 100% .

LOC646862 994 10% .

LOC647589 1172 2% .

LOC649330 886 100% .

LOC650293 655 100% .

LOC653486 300 100% .

LOC728369 6388 3% .

LOC728373 6388 3% .

LOC728379 6388 3% .

LOC728392 364 0% .

LOC728393 6388 3% .

LOC728400 6388 3% .

LOC728405 6388 3% .

LOC728819 952 100% .

LOC729020 691 100% .

LOC730159 542 0% .

LOC730755 391 4% .

LOC81691 2401 97% .

LOH12CR1 607 100% .

LONP1 2952 95% .

LONP2 2619 97% .

LONRF1 2370 69% .

LONRF2 2313 77% .

LONRF3 2324 82% .

LOR 943 29% .

LOX 1395 97% .

LOXHD1 8310 96% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

LOXHD1 8310 96% DFNB77 Nonsyndromic Hearing Loss and Deafness

LOXL1 1753 63% .

LOXL2 2377 100% .

LOXL3 2314 100% .

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LOXL4 2327 99% .

LPA 6279 73% .

LPAR1 1107 100% .

LPAR2 1064 100% .

LPAR3 1070 100% .

LPAR4 1117 100% .

LPAR5 1123 72% .

LPAR6 1039 100% .

LPCAT1 1661 92% .

LPCAT2 1691 97% .

LPCAT3 1512 99% .

LPCAT4 1631 86% .

LPGAT1 1141 100% .

LPHN1 4517 91% .

LPHN2 4288 100% .

LPHN3 4502 100% .

LPIN1 2749 100% Myoglobinuria, Acute Recurrent, Autosomal Recessive

LPIN2 2767 100% Majeed Syndrome

LPIN3 2632 100% .

LPL 1468 99% Familial Lipoprotein Lipase Deficiency

LPL 1468 99% Choriodal Dystrophy, Central Areolar 2

LPO 2187 99% .

LPP 2563 100% .

LPPR1 1006 100% .

LPPR2 2059 81% .

LPPR3 2265 51% .

LPPR4 2320 90% .

LPPR5 1129 100% .

LPXN 1229 97% .

LRAT 701 100% Retinitis Pigmentosa, Autosomal Recessive

LRAT 701 100% Leber Congenital Amaurosis

LRAT 701 100% Retinitis Pigmentosa

LRAT 701 100% Retinal Dystrophy, Early-Onset, Severe

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LRAT 701 100% LRAT-Related Leber Congenital Amaurosis

LRAT 701 100% LRAT-Related Retinitis Pigmentosa

LRBA 8992 100% .

LRCH1 2487 91% .

LRCH2 2382 90% .

LRCH3 2215 97% .

LRCH4 2124 92% .

LRFN1 2324 96% .

LRFN2 2378 98% .

LRFN3 1895 95% .

LRFN4 1916 71% .

LRFN5 2176 100% .

LRG1 1052 100% .

LRGUK 2558 100% .

LRIF1 2603 100% .

LRIG1 3358 95% .

LRIG2 3270 100% .

LRIG3 3496 93% .

LRIT1 1888 87% .

LRIT2 1665 100% .

LRIT3 1917 100% .

LRMP 1568 100% .

LRP1 13991 99% .

LRP10 2170 100% .

LRP11 1531 67% .

LRP12 2608 100% .

LRP1B 14164 100% .

LRP2 14284 99% Donnai-Barrow Syndrome

LRP2BP 1076 100% .

LRP3 2341 86% .

LRP4 5870 98% LRP4-Related Bone Mineral Density Variation

LRP5 4940 97% Familial Exudative Vitreoretinopathy, Autosomal Dominant

LRP5 4940 97% Osteoporosis Pseudoglioma Syndrome

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LRP5 4940 97% Familial Exudative Vitreoretinopathy

LRP5 4940 97% Van Buchem Disease, Type 2

LRP5 4940 97% Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus

LRP5 4940 97% LRP5-Related Bone Mineral Density Variation

LRP5 4940 97% LRP5-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant

LRP5 4940 97% LRP5-Related Autosomal Dominant Osteopetrosis

LRP5 4940 97% LRP5-Related Familial Exudative Vitreoretinopathy, Autosomal Recessive

LRP5L 775 100% .

LRP6 4934 100% .

LRP8 2968 83% Myocardial Infarction, Susceptibility to, 1

LRPAP1 1106 82% .

LRPPRC 4337 97% Leigh Syndrome, French-Canadian Type

LRPPRC 4337 97% Choriodal Dystrophy, Central Areolar 2

LRR1 1506 99% .

LRRC1 1631 100% .

LRRC10 838 100% .

LRRC10B 883 9% .

LRRC14 1494 100% .

LRRC14B 1553 82% .

LRRC15 3525 99% .

LRRC16A 4481 100% .

LRRC16B 4279 95% .

LRRC17 1356 100% .

LRRC18 794 100% .

LRRC19 1129 100% .

LRRC2 1148 100% .

LRRC20 571 100% .

LRRC23 1241 100% .

LRRC24 1558 69% .

LRRC25 926 100% .

LRRC26 1013 24% .

LRRC27 1966 95% .

LRRC28 1140 100% .

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LRRC29 688 79% .

LRRC3 778 100% .

LRRC30 910 100% .

LRRC31 1695 100% .

LRRC32 1997 100% .

LRRC33 2087 100% .

LRRC34 1643 85% .

LRRC36 2478 98% .

LRRC37A 5159 36% .

LRRC37A2 5159 51% .

LRRC37A3 4953 92% .

LRRC37B 2892 100% .

LRRC38 893 89% .

LRRC39 1040 100% .

LRRC3B 784 100% .

LRRC3C 835 69% .

LRRC4 1966 100% .

LRRC40 1869 100% .

LRRC41 2479 96% .

LRRC42 1315 100% .

LRRC43 2163 97% .

LRRC45 2081 62% .

LRRC46 998 100% .

LRRC47 1780 72% .

LRRC48 1672 98% .

LRRC49 2281 97% .

LRRC4B 2150 92% .

LRRC4C 1927 100% .

LRRC52 950 100% .

LRRC55 1034 100% .

LRRC56 1673 87% .

LRRC57 740 100% .

LRRC58 1132 79% .

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LRRC59 952 100% .

LRRC6 1449 100% .

LRRC61 784 100% .

LRRC66 2659 100% .

LRRC69 1076 55% .

LRRC7 4714 100% .

LRRC70 1873 0% .

LRRC71 1740 83% .

LRRC72 900 99% .

LRRC73 975 94% .

LRRC8A 2441 100% .

LRRC8B 2420 100% .

LRRC8C 2420 100% .

LRRC8D 2581 100% .

LRRC8E 2399 100% .

LRRCC1 3175 100% .

LRRD1 2603 100% .

LRRFIP1 3631 93% .

LRRFIP2 2274 98% .

LRRIQ1 5277 100% .

LRRIQ3 1903 100% .

LRRIQ4 1703 100% .

LRRK1 6180 96% .

LRRK2 7788 100% Parkinson Disease

LRRK2 7788 100% LRRK2-Related Parkinson Disease

LRRN1 2155 100% .

LRRN2 2146 100% .

LRRN3 2131 100% .

LRRN4 2239 83% .

LRRN4CL 721 90% .

LRRTM1 1573 100% .

LRRTM2 1559 100% .

LRRTM3 1758 100% .

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LRRTM4 3348 100% .

LRSAM1 2268 94% Charcot-Marie-Tooth Neuropathy Type 2

LRSAM1 2268 94% Charcot-Marie-Tooth Neuropathy Type 2P

LRTM1 1050 100% .

LRTM2 1125 94% .

LRTOMT 1650 87% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

LRTOMT 1650 87% DFNB63 Nonsyndromic Hearing Loss and Deafness

LRWD1 2004 79% .

LSAMP 1045 100% .

LSG1 2033 100% .

LSM1 418 100% .

LSM10 376 100% .

LSM11 1099 88% .

LSM12 608 81% .

LSM14A 1460 98% .

LSM14B 1190 100% .

LSM2 308 100% .

LSM3 325 100% .

LSM4 440 78% .

LSM5 396 100% .

LSM6 255 100% .

LSM7 328 79% .

LSMD1 530 100% .

LSP1 1202 84% .

LSR 1990 98% .

LSS 2543 96% .

LST1 883 99% .

LTA 630 100% .

LTA4H 1912 100% .

LTB 751 96% .

LTB4R 1063 83% .

LTB4R2 1081 100% .

LTBP1 5816 94% .

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LTBP2 5610 95% LTBP2-Related Primary Congenital Glaucoma

LTBP2 5610 95% Primary Congenital Glaucoma

LTBP3 4358 76% .

LTBP4 5458 89% Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary Abnormalities

LTBR 1348 96% .

LTC4S 473 56% .

LTF 2369 100% .

LTK 2875 91% .

LTN1 5559 100% .

LTV1 1472 100% .

LUC7L 1336 96% .

LUC7L2 1569 96% .

LUC7L3 1339 100% .

LUM 1025 100% .

LUZP1 3239 100% .

LUZP2 1175 100% .

LUZP4 958 100% .

LUZP6 181 0% .

LXN 693 100% .

LY6D 399 86% .

LY6E 408 100% .

LY6G5B 618 100% .

LY6G5C 465 100% .

LY6G6C 390 100% .

LY6G6D 414 100% .

LY6G6F 918 100% .

LY6H 634 58% .

LY6K 945 90% .

LY75 5309 98% .

LY75-CD302 5778 98% .

LY86 509 100% .

LY9 2140 100% .

LY96 503 100% .

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LYAR 1172 100% .

LYG1 605 100% .

LYG2 659 100% .

LYL1 855 46% .

LYN 1723 100% .

LYNX1 669 90% .

LYPD1 580 100% .

LYPD2 390 56% .

LYPD3 1061 100% .

LYPD4 757 100% .

LYPD5 909 92% .

LYPD6 532 100% .

LYPD6B 648 100% .

LYPLA1 729 95% .

LYPLA2 732 100% .

LYPLAL1 734 100% .

LYRM1 381 100% .

LYRM2 279 100% .

LYRM4 566 35% .

LYRM5 281 100% .

LYRM7 335 95% .

LYSMD1 736 95% .

LYSMD2 660 59% .

LYSMD3 929 100% .

LYSMD4 910 100% .

LYST 11610 100% Chediak-Higashi Syndrome

LYVE1 993 100% .

LYZ 463 100% Familial Visceral Amyloidosis

LYZ 463 100% LYZ-Related Familial Visceral Amyloidosis

LYZL1 605 100% .

LYZL2 605 100% .

LYZL4 457 87% .

LYZL6 463 100% .

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LZIC 597 100% .

LZTFL1 940 100% .

LZTR1 2607 90% .

LZTS1 1803 98% .

LZTS2 2026 90% .

M6PR 858 100% .

MAB21L1 1084 100% .

MAB21L2 1084 100% .

MAB21L3 1113 100% .

MACC1 2575 100% .

MACF1 16665 100% .

MACROD1 1018 65% .

MACROD2 1505 100% .

MAD1L1 2225 94% .

MAD2L1 638 100% .

MAD2L1BP 987 80% .

MAD2L2 668 100% .

MADCAM1 1169 52% .

MADD 5569 100% .

MAEA 1227 100% .

MAEL 1353 97% .

MAF 2350 67% .

MAF1 799 98% .

MAFA 1066 55% .

MAFB 976 99% .

MAFF 966 50% .

MAFG 497 97% .

MAFK 479 61% .

MAG 2327 94% .

MAGEA1 934 100% .

MAGEA10 1114 100% .

MAGEA10-MAGEA5 379 100% .

MAGEA11 1319 100% .

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MAGEA12 949 100% .

MAGEA2 1898 0% .

MAGEA2B 1898 0% .

MAGEA3 949 93% .

MAGEA4 958 100% .

MAGEA5 379 100% .

MAGEA6 949 94% .

MAGEA8 961 100% .

MAGEA9 1904 10% .

MAGEA9B 1904 10% .

MAGEB1 1048 100% .

MAGEB10 1048 100% .

MAGEB16 979 100% .

MAGEB18 1036 100% .

MAGEB2 964 100% .

MAGEB3 1045 100% .

MAGEB4 1045 100% .

MAGEB6 1228 100% .

MAGEC1 3437 100% .

MAGEC2 1126 100% .

MAGEC3 4699 98% .

MAGED1 2553 99% .

MAGED2 1865 92% .

MAGED4 4528 3% .

MAGED4B 5434 5% .

MAGEE1 2878 97% .

MAGEE2 1576 100% .

MAGEF1 928 99% .

MAGEH1 664 99% .

MAGEL2 3754 48% .

MAGI1 5875 100% .

MAGI2 4456 92% .

MAGI3 4584 96% .

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MAGIX 1758 80% .

MAGOH 461 100% .

MAGOHB 467 100% .

MAGT1 1144 100% Congenital Disorders of Glycosylation

MAGT1 1144 100% MAGT1-CDG

MAGT1 1144 100% Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia

MAGT1 1144 100% X-Linked Mental Retardation 95

MAK 1924 100% Retinitis Pigmentosa

MAK 1924 100% MAK-Related Retinitis Pigmentosa

MAK16 943 100% .

MAL 478 84% .

MAL2 685 60% .

MALL 478 46% .

MALT1 2543 92% .

MAMDC2 2117 94% .

MAMDC4 3522 91% .

MAML1 3071 90% .

MAML2 3491 91% .

MAML3 3429 96% .

MAMLD1 3556 70% .

MAMSTR 1473 76% .

MAN1A1 2010 99% .

MAN1A2 1978 100% .

MAN1B1 2152 90% Mental Retardation, Nonsyndromic

MAN1C1 1941 97% .

MAN2A1 3523 100% .

MAN2A2 3541 99% .

MAN2B1 3219 91% Alpha-Mannosidosis

MAN2B1 3219 91% Choriodal Dystrophy, Central Areolar 2

MAN2B2 3106 96% .

MAN2C1 3227 93% .

MANBA 2708 94% Beta-Mannosidosis

MANBA 2708 94% Choriodal Dystrophy, Central Areolar 2

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MANBAL 266 100% .

MANEA 1405 100% .

MANEAL 2145 85% .

MANF 565 83% .

MANSC1 1308 100% .

MANSC4 1035 100% .

MAOA 1644 93% MAOA-Related Behavior Disorders

MAOA 1644 93% Brunner Syndrome

MAOB 1623 100% .

MAP1A 8424 100% .

MAP1B 7435 100% .

MAP1LC3A 438 87% .

MAP1LC3B 394 95% .

MAP1LC3B2 382 100% .

MAP1LC3C 460 100% .

MAP1S 3208 73% .

MAP2 5804 100% .

MAP2K1 1226 95% Cardiofaciocutaneous Syndrome

MAP2K1 1226 95% Noonan Syndrome

MAP2K1 1226 95% MAP2K1-Related Cardiofaciocutaneous Syndrome

MAP2K1 1226 95% MAP2K1-Related Noonan Syndrome

MAP2K2 1247 82% Cardiofaciocutaneous Syndrome

MAP2K2 1247 82% MAP2K2-Related Cardiofaciocutaneous Syndrome

MAP2K3 1163 100% .

MAP2K4 1244 90% .

MAP2K5 1435 94% .

MAP2K6 1053 100% .

MAP2K7 1304 82% .

MAP3K1 4619 90% .

MAP3K10 2905 76% .

MAP3K11 2584 90% .

MAP3K12 3629 99% .

MAP3K13 2953 100% .

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MAP3K14 2903 100% .

MAP3K15 4058 87% .

MAP3K2 1924 100% .

MAP3K3 2042 100% .

MAP3K4 4935 99% .

MAP3K5 4245 99% .

MAP3K6 3983 91% .

MAP3K7 2074 100% .

MAP3K8 1432 100% .

MAP3K9 3409 92% .

MAP4 3694 99% .

MAP4K1 2766 89% .

MAP4K2 2591 90% .

MAP4K3 2821 100% .

MAP4K4 4675 100% .

MAP4K5 2665 100% .

MAP6 2667 75% .

MAP6D1 612 27% .

MAP7 2784 91% .

MAP7D1 2594 79% .

MAP7D2 2633 98% .

MAP7D3 2723 97% .

MAP9 1996 100% .

MAPK1 1115 90% .

MAPK10 1917 100% Epileptic Encephalopathy, Lennox-Gastaut Type

MAPK11 1143 79% .

MAPK12 1152 77% .

MAPK13 1146 100% .

MAPK14 1582 100% .

MAPK15 1691 94% .

MAPK1IP1L 750 100% .

MAPK3 1400 95% .

MAPK4 1784 82% .

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MAPK6 2186 100% .

MAPK7 3558 96% .

MAPK8 1564 100% .

MAPK8IP1 2184 78% .

MAPK8IP2 2982 74% .

MAPK8IP3 4345 96% .

MAPK9 1710 100% .

MAPKAP1 1808 100% .

MAPKAPK2 1301 93% .

MAPKAPK3 1189 96% .

MAPKAPK5 1604 100% .

MAPKBP1 4669 98% .

MAPRE1 831 100% .

MAPRE2 1364 93% .

MAPRE3 870 100% .

MAPT 2387 97% MAPT-Related Disorders

MAPT 2387 97% Choriodal Dystrophy, Central Areolar 2

MARCKS 1007 63% .

MARCKSL1 596 100% .

MARCO 1631 97% .

MARK1 2460 99% .

MARK2 2813 98% .

MARK3 2492 100% .

MARK4 2208 87% .

MARS 2787 100% .

MARS2 1786 100% .

MARVELD1 526 75% .

MARVELD2 1701 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

MARVELD2 1701 100% DFNB49 Nonsyndromic Hearing Loss and Deafness

MARVELD3 1860 75% .

MAS1 982 100% .

MAS1L 1141 100% .

MASP1 3109 99% .

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MASP2 2123 89% MASP2 Deficiency

MAST1 4817 96% .

MAST2 5513 96% .

MAST3 4038 92% .

MAST4 8118 97% .

MASTL 2834 100% Thrombocytopenia 2

MAT1A 1224 99% Isolated Persistent Hypermethioninemia

MAT1A 1224 99% Choriodal Dystrophy, Central Areolar 2

MAT2A 1224 100% .

MAT2B 1067 94% .

MATK 1719 94% .

MATN1 1523 89% .

MATN2 3082 100% .

MATN3 1493 85% MATN3-Related Multiple Epiphyseal Dysplasia

MATN3 1493 85% Multiple Epiphyseal Dysplasia, Dominant

MATN3 1493 85% Choriodal Dystrophy, Central Areolar 2

MATN4 1782 96% .

MATR3 2652 98% Distal Myopathy 2

MAU2 1918 100% .

MAVS 1824 100% .

MAX 1081 100% Hereditary Paraganglioma-Pheochromocytoma Syndromes

MAX 1081 100% MAX-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

MAZ 1661 80% .

MB 477 100% .

MB21D1 1589 85% .

MB21D2 1484 100% .

MBD1 2742 100% .

MBD2 1471 76% .

MBD3 900 98% .

MBD3L1 589 100% .

MBD3L2 635 44% .

MBD3L3 635 95% .

MBD3L4 635 12% .

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MBD3L5 635 26% .

MBD4 1775 98% .

MBD5 4525 100% Mental Retardation, Autosomal Dominant 1

MBD6 3056 100% .

MBIP 1183 100% .

MBL2 763 100% Mannose-Binding Protein Deficiency

MBLAC1 805 79% .

MBLAC2 848 91% .

MBNL1 1368 100% .

MBNL2 1381 100% .

MBNL3 1513 100% .

MBOAT1 1540 100% .

MBOAT2 1615 95% .

MBOAT4 1320 73% .

MBOAT7 1770 77% .

MBP 1965 96% .

MBTD1 1947 100% .

MBTPS1 3247 100% .

MBTPS2 1604 96% Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

MC1R 958 100% Cutaneous Malignant Melanoma

MC2R 898 100% Glucocorticoid Deficiency 1

MC2R 898 100% Choriodal Dystrophy, Central Areolar 2

MC3R 976 100% .

MC4R 1003 100% Obesity, MC4R-Related

MC4R 1003 100% Obesity

MC4R 1003 100% Choriodal Dystrophy, Central Areolar 2

MC5R 982 100% .

MCAM 2005 96% .

MCART1 898 100% .

MCART2 898 100% .

MCART6 928 100% .

MCAT 1637 90% .

MCC 3197 100% .

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MCCC1 2254 98% 3-Methylcrotonyl-CoA Carboxylase Deficiency

MCCC1 2254 98% MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency

MCCC1 2254 98% Choriodal Dystrophy, Central Areolar 2

MCCC2 1760 92% 3-Methylcrotonyl-CoA Carboxylase Deficiency

MCCC2 1760 92% MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency

MCCC2 1760 92% Choriodal Dystrophy, Central Areolar 2

MCCD1 368 83% .

MCEE 543 99% Methylmalonic Acidemia

MCEE 543 99% MCEE-Related Methylmalonic Acidemia

MCF2 3266 100% .

MCF2L 3415 96% .

MCF2L2 3465 99% .

MCFD2 805 77% Factor V and Factor VIII, Combined Deficiency of

MCHR1 1277 100% .

MCHR2 1043 100% .

MCL1 2592 96% .

MCM10 2849 100% .

MCM2 2779 100% .

MCM3 2495 99% .

MCM3AP 6055 99% .

MCM4 2656 100% .

MCM5 2269 95% .

MCM6 2534 100% Lactose Intolerance, Adult Type

MCM7 2405 100% .

MCM8 2795 100% .

MCM9 3656 95% .

MCMBP 2325 97% .

MCOLN1 1799 98% Mucolipidosis IV

MCOLN1 1799 98% Choriodal Dystrophy, Central Areolar 2

MCOLN2 1757 100% .

MCOLN3 1710 100% .

MCPH1 3739 100% Primary Autosomal Recessive Microcephaly Type 1

MCPH1 3739 100% Primary Autosomal Recessive Microcephaly

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MCRS1 1498 96% .

MCTP1 3153 87% .

MCTP2 2936 100% .

MCTS1 588 100% .

MCU 1088 88% .

MDC1 6326 100% .

MDFI 757 90% .

MDFIC 1335 84% .

MDGA1 2936 90% .

MDGA2 3283 99% .

MDH1 1282 100% .

MDH1B 1605 100% .

MDH2 1053 93% .

MDK 448 99% .

MDM1 2912 100% .

MDM2 1538 100% .

MDM4 2087 100% .

MDN1 17199 100% .

MDP1 889 100% .

ME1 1775 97% .

ME2 1987 100% .

ME3 1871 100% .

MEA1 574 99% .

MEAF6 638 98% .

MECOM 4066 100% .

MECP2 1539 98% MECP2-Related Disorders

MECP2 1539 98% MECP2 Duplication Syndrome

MECP2 1539 98% X-Linked Mental Retardation, Syndromic, 13 (319665)

MECP2 1539 98% MECP2-Related Angelman-like Syndrome

MECP2 1539 98% X-Linked Syndromic Mental Retardation 13

MECP2 1539 98% Choriodal Dystrophy, Central Areolar 2

MECR 1264 96% .

MED1 4814 100% .

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MED10 424 100% .

MED11 366 100% .

MED12 6714 96% FG Syndrome Type 1

MED12 6714 96% Lujan Syndrome

MED12 6714 96% MED12-Related Disorders

MED12L 6610 100% .

MED13 6645 100% .

MED13L 6757 100% .

MED14 4489 93% .

MED15 2439 99% .

MED16 2694 83% .

MED17 2004 93% .

MED18 635 100% .

MED19 601 63% .

MED20 655 100% .

MED21 451 100% .

MED22 852 100% .

MED23 4424 100% .

MED24 3070 95% .

MED25 2316 95% Charcot-Marie-Tooth Neuropathy Type 2

MED25 2316 95% Charcot-Marie-Tooth Neuropathy Type 2B2

MED26 1815 96% .

MED27 968 99% .

MED28 553 100% .

MED29 682 100% .

MED30 553 99% .

MED31 412 100% .

MED4 841 100% .

MED6 773 100% .

MED7 706 100% .

MED8 1011 100% .

MED9 449 100% .

MEF2A 1700 100% .

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MEF2B 1242 59% .

MEF2BNB 503 0% .

MEF2BNB-MEF2B 1126 65% .

MEF2C 2078 100% Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations

MEF2D 1610 87% .

MEFV 3331 99% Familial Mediterranean Fever

MEFV 3331 99% Choriodal Dystrophy, Central Areolar 2

MEGF10 3519 100% Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia

MEGF11 3223 89% .

MEGF6 4774 78% .

MEGF8 8501 93% .

MEGF9 1833 88% .

MEI1 3949 99% .

MEIG1 275 100% .

MEIS1 1221 100% .

MEIS2 2280 100% .

MEIS3 1687 92% .

MELK 2024 100% .

MEMO1 930 93% .

MEN1 2348 92% Multiple Endocrine Neoplasia Type 1

MEN1 2348 92% Hyperparathyroidism 1

MEN1 2348 92% Choriodal Dystrophy, Central Areolar 2

MEOX1 1377 94% .

MEOX2 927 99% .

MEP1A 2297 100% .

MEP1B 2166 100% .

MEPCE 3761 82% .

MEPE 3064 100% .

MERTK 3076 99% Retinitis Pigmentosa, Autosomal Recessive

MERTK 3076 99% Retinitis Pigmentosa

MERTK 3076 99% MERTK-Related Retinitis Pigmentosa

MESDC1 1093 79% .

MESDC2 717 100% .

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MESP1 815 53% .

MESP2 1202 78% MESP2-Related Spondylocostal Dysostosis, Autosomal Recessive

MESP2 1202 78% Spondylocostal Dysostosis

MESP2 1202 78% Spondylocostal Dysostosis, Autosomal Recessive

MESP2 1202 78% Spondylothoracic Dysostosis

MEST 1374 98% .

MET 4465 100% Papillary Renal Carcinoma

MET 4465 100% Choriodal Dystrophy, Central Areolar 2

METAP1 1205 99% .

METAP1D 1048 96% .

METAP2 1481 100% .

METRN 898 28% .

METRNL 952 80% .

METTL1 961 100% .

METTL10 904 62% .

METTL11A 684 100% .

METTL11B 868 100% .

METTL12 731 100% .

METTL13 3864 100% .

METTL14 1415 100% .

METTL15 1292 100% .

METTL16 1725 100% .

METTL17 2232 100% .

METTL18 1123 100% .

METTL19 2318 87% .

METTL20 801 100% .

METTL21A 669 100% .

METTL21B 1232 100% .

METTL21C 811 100% .

METTL21D 714 100% .

METTL22 1255 100% .

METTL23 831 100% .

METTL2A 1173 100% .

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METTL2B 1173 100% .

METTL3 1787 100% .

METTL4 1451 100% .

METTL5 658 100% .

METTL6 875 100% .

METTL7A 743 100% .

METTL7B 743 100% .

METTL8 1260 100% .

METTL9 1187 90% .

MEX3A 1571 93% .

MEX3B 1718 97% .

MEX3C 1988 68% .

MEX3D 3392 51% .

MFAP1 1356 100% .

MFAP2 678 80% .

MFAP3 1895 100% .

MFAP3L 2174 100% .

MFAP4 874 92% .

MFAP5 558 100% .

MFF 1065 100% .

MFGE8 1196 94% .

MFHAS1 3171 91% .

MFI2 2482 89% .

MFN1 2294 100% .

MFN2 2342 100% Charcot-Marie-Tooth Neuropathy Type 2

MFN2 2342 100% Charcot-Marie-Tooth Neuropathy Type 2A2

MFN2 2342 100% Charcot-Marie-Tooth Neuropathy Type 2A

MFN2 2342 100% Hereditary Motor and Sensory Neuropathy VI

MFNG 1271 100% .

MFRP 1792 100% .

MFSD1 1666 96% .

MFSD10 1416 85% .

MFSD11 1402 100% .

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MFSD12 1690 84% .

MFSD2A 1856 98% .

MFSD2B 1546 93% .

MFSD3 1259 56% .

MFSD4 1585 91% .

MFSD5 3057 97% .

MFSD6 2400 100% .

MFSD6L 1765 100% .

MFSD7 1785 86% .

MFSD8 1605 100% Neuronal Ceroid-Lipofuscinoses

MFSD8 1605 100% MFSD8-Related Neuronal Ceroid-Lipofuscinosis

MFSD9 1449 100% .

MGA 9290 100% .

MGAM 5762 100% .

MGAT1 1342 95% .

MGAT2 1348 100% Congenital Disorders of Glycosylation

MGAT2 1348 100% MGAT2-CDG (CDG-IIa)

MGAT2 1348 100% Choriodal Dystrophy, Central Areolar 2

MGAT3 1606 96% .

MGAT4A 1770 95% .

MGAT4B 2181 94% .

MGAT4C 1449 100% .

MGAT5 2290 100% .

MGAT5B 2932 95% .

MGEA5 2815 97% .

MGLL 1123 92% .

MGMT 737 96% .

MGP 407 81% Keutel Syndrome

MGRN1 1847 91% .

MGST1 480 100% .

MGST2 625 100% .

MGST3 479 100% .

MIA 412 100% .

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MIA2 1989 100% .

MIA3 5836 98% .

MIB1 3105 99% .

MIB2 4278 62% .

MICA 1460 95% .

MICAL1 3300 100% .

MICAL2 3475 100% .

MICAL3 7207 95% .

MICALCL 2120 95% .

MICALL1 2656 80% .

MICALL2 2783 72% .

MICB 1176 95% .

MICU1 1668 93% .

MID1 3428 94% Opitz G/BBB Syndrome, X-Linked

MID1IP1 556 100% .

MID2 2486 100% .

MIDN 1435 84% .

MIEN1 364 75% .

MIER1 2888 98% .

MIER2 1694 88% .

MIER3 1702 99% .

MIF 360 49% .

MIF4GD 901 100% .

MIIP 1203 100% .

MILR1 285 100% .

MINA 1610 100% .

MINK1 4420 91% .

MINOS1 253 100% .

MINPP1 1923 100% .

MIOS 2668 100% .

MIOX 898 99% .

MIP 808 100% .

MIPEP 2218 91% .

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MIPOL1 1373 100% .

MIR205HG 321 98% .

MIS12 622 100% .

MIS18A 722 98% .

MIS18BP1 3463 100% .

MITD1 778 100% .

MITF 2407 97% Waardenburg Syndrome Type II

MITF 2407 97% Waardenburg Syndrome Type IIA

MITF 2407 97% Tietz Syndrome

MIXL1 707 64% .

MKI67 9827 100% .

MKI67IP 910 100% .

MKKS 1729 100% Bardet-Biedl Syndrome

MKKS 1729 100% McKusick-Kaufman Syndrome

MKKS 1729 100% MKKS-Related Bardet-Biedl Syndrome

MKKS 1729 100% Choriodal Dystrophy, Central Areolar 2

MKL1 2844 96% .

MKL2 3210 100% .

MKLN1 2313 99% .

MKNK1 1680 92% .

MKNK2 1545 71% .

MKRN1 1708 89% .

MKRN2 1283 98% .

MKRN3 1528 100% .

MKS1 1806 92% Bardet-Biedl Syndrome

MKS1 1806 92% Meckel Syndrome

MKS1 1806 92% MKS1-Related Meckel Syndrome

MKS1 1806 92% MKS1-Related Bardet-Biedl Syndrome

MKX 1083 93% .

MLANA 373 100% .

MLC1 1178 98% MLC1-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts

MLC1 1178 98% Megalencephalic Leukoencephalopathy with Subcortical Cysts

MLC1 1178 98% Choriodal Dystrophy, Central Areolar 2

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MLEC 899 95% .

MLF1 1135 91% .

MLF1IP 1309 98% .

MLF2 775 96% .

MLH1 2567 100% Lynch Syndrome

MLH1 2567 100% Turcot Syndrome

MLH1 2567 100% MLH1-Related Lynch Syndrome

MLH1 2567 100% MLH1-Related Muir-Torre Syndrome

MLH1 2567 100% MLH1-Related Turcot Syndrome

MLH1 2567 100% Choriodal Dystrophy, Central Areolar 2

MLH3 4410 100% Lynch Syndrome

MLH3 4410 100% MLH3-Related Lynch Syndrome

MLIP 1429 100% .

MLKL 1572 100% .

MLL 12190 99% .

MLL2 16830 98% Kabuki Syndrome

MLL3 14972 100% .

MLL4 8296 92% .

MLL5 5677 100% .

MLLT1 1728 89% .

MLLT10 4276 97% .

MLLT11 277 100% .

MLLT3 1751 100% .

MLLT4 5462 98% .

MLLT6 3362 88% .

MLN 486 58% .

MLNR 1247 89% .

MLPH 1863 96% .

MLST8 1069 100% .

MLX 1137 68% .

MLXIP 2828 94% .

MLXIPL 2883 76% .

MLYCD 1502 84% Malonyl-CoA Decarboxylase Deficiency

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MLYCD 1502 84% Choriodal Dystrophy, Central Areolar 2

MMAA 1281 100% Methylmalonic Acidemia

MMAA 1281 100% MMAA-Related Methylmalonic Acidemia

MMAA 1281 100% Choriodal Dystrophy, Central Areolar 2

MMAB 789 85% Methylmalonic Acidemia

MMAB 789 85% MMAB-Related Methylmalonic Acidemia

MMACHC 865 100% cblC

MMACHC 865 100% Disorders of Intracellular Cobalamin Metabolism

MMADHC 919 100% Methylmalonic Acidemia

MMADHC 919 100% Disorders of Intracellular Cobalamin Metabolism

MMADHC 919 100% cblD

MMADHC 919 100% cblD (variant 1)

MMADHC 919 100% cblD (variant 2)

MMADHC 919 100% MMADHC-Related Methylmalonic Acidemia

MMD 745 100% .

MMD2 987 88% .

MME 2341 100% .

MMEL1 2432 88% .

MMGT1 412 80% .

MMP1 1699 100% .

MMP10 1471 100% .

MMP11 1499 92% .

MMP12 1452 100% .

MMP13 1456 100% Spondyloepimetaphyseal Dysplasia, Missouri Type

MMP13 1456 100% Metaphyseal Anadysplasia 1

MMP14 1789 99% .

MMP15 2050 84% .

MMP16 1864 100% .

MMP17 1852 80% .

MMP19 1563 99% .

MMP2 2042 100% Winchester Syndrome

MMP2 2042 100% Multicentric Osteolysis of Torg

MMP2 2042 100% Multicentric Osteolysis, Nodulosis, and Arthropathy

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MMP20 1492 100% Amelogenesis Imperfecta, Hypomaturation Type, IIA2

MMP21 1738 80% .

MMP23B 1205 14% .

MMP24 1974 87% .

MMP25 1729 74% .

MMP26 810 100% .

MMP27 1582 100% .

MMP28 1814 93% .

MMP3 1474 100% .

MMP7 828 100% .

MMP8 1444 100% .

MMP9 2176 78% .

MMRN1 3719 100% .

MMRN2 2878 96% .

MMS19 3217 100% .

MMS22L 3828 100% .

MN1 3971 82% .

MNAT1 962 100% .

MND1 699 100% .

MNDA 1248 100% .

MNS1 1528 100% .

MNT 1773 68% .

MNX1 1277 49% Currarino Syndrome

MOAP1 1060 100% .

MOB1A 675 99% .

MOB1B 813 100% .

MOB2 852 80% .

MOB3A 666 100% .

MOB3B 663 100% .

MOB3C 1295 100% .

MOB4 777 94% .

MOBP 254 100% .

MOCOS 2727 95% .

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MOCS1 1575 93% Molybdenum Cofactor Deficiency

MOCS2 931 98% Molybdenum Cofactor Deficiency

MOCS3 1387 100% .

MOG 861 100% .

MOGAT1 1032 92% .

MOGAT2 1029 100% .

MOGAT3 1054 100% .

MOGS 2886 80% Congenital Disorders of Glycosylation

MOGS 2886 80% MOGS-CDG (CDG-IIb)

MOK 1308 100% .

MON1A 1983 93% .

MON1B 1664 100% .

MON2 5294 100% .

MORC1 3067 100% .

MORC2 3005 100% .

MORC3 2888 99% .

MORC4 3328 97% .

MORF4L1 1141 96% .

MORF4L2 871 100% .

MORN1 1550 76% .

MORN2 248 100% .

MORN3 743 86% .

MORN4 457 100% .

MORN5 506 100% .

MOS 1045 100% .

MOSPD1 662 100% .

MOSPD2 1777 100% .

MOSPD3 962 100% .

MOV10 3092 100% .

MOV10L1 3911 96% .

MOXD1 1890 94% .

MPDU1 772 100% Congenital Disorders of Glycosylation

MPDU1 772 100% MPDU1-CDG (CDG-If)

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MPDZ 6306 100% .

MPEG1 2155 100% .

MPG 1221 95% .

MPHOSPH10 2090 100% .

MPHOSPH6 503 100% .

MPHOSPH8 2639 97% .

MPHOSPH9 3176 100% .

MPI 1304 100% Congenital Disorders of Glycosylation

MPI 1304 100% MPI-CDG (CDG-Ib)

MPI 1304 100% Choriodal Dystrophy, Central Areolar 2

MPL 1956 92% Amegakaryocytic Thrombocytopenia, Congenital

MPL 1956 92% MPL-Related Essential Thrombocythemia

MPL 1956 92% Choriodal Dystrophy, Central Areolar 2

MPND 1558 74% .

MPO 2286 98% .

MPP1 1814 97% .

MPP2 1707 100% .

MPP3 1830 96% .

MPP4 1998 100% Retinitis Pigmentosa, Autosomal Recessive

MPP5 2080 100% .

MPP6 1667 100% .

MPP7 1795 100% .

MPPE1 1227 100% .

MPPED1 1005 88% .

MPPED2 981 100% .

MPRIP 3246 100% .

MPST 1589 71% .

MPV17 559 100% MPV17- Related Hepatocerebral Mitochondrial DNA Depletion Syndrome

MPV17 559 100% Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form

MPV17L 791 63% .

MPV17L2 641 75% .

MPZ 771 95% Charcot-Marie-Tooth Neuropathy Type 1

MPZ 771 95% Charcot-Marie-Tooth Neuropathy Type 2

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MPZ 771 95% Congenital Hypomyelination

MPZ 771 95% Charcot-Marie-Tooth Neuropathy Type 1B

MPZ 771 95% Charcot-Marie-Tooth Neuropathy Type 2I/2J

MPZ 771 95% Charcot-Marie-Tooth Neuropathy Type 2J

MPZ 771 95% MPZ-Related Intermediate Charcot-Marie-Tooth Neuropathy

MPZ 771 95% Choriodal Dystrophy, Central Areolar 2

MPZL1 940 90% .

MPZL2 668 100% .

MPZL3 732 100% .

MR1 1330 100% .

MRAP 638 100% Glucocorticoid Deficiency 2

MRAP2 630 100% .

MRAS 805 100% .

MRC1 8982 34% .

MRC2 4560 91% .

MRE11A 2203 100% Ataxia-Telangiectasia-Like Disorder

MREG 665 87% .

MRFAP1 388 100% .

MRFAP1L1 388 100% .

MRGPRD 970 100% .

MRGPRE 940 76% .

MRGPRF 1040 52% .

MRGPRG 874 29% .

MRGPRX1 973 100% .

MRGPRX2 997 100% .

MRGPRX3 973 100% .

MRGPRX4 973 100% .

MRI1 1408 77% .

MRM1 1082 100% .

MRO 920 84% .

MRP63 313 100% .

MRPL1 1014 100% .

MRPL10 892 84% .

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MRPL11 803 100% .

MRPL12 617 87% .

MRPL13 565 100% .

MRPL14 446 100% .

MRPL15 911 88% .

MRPL16 772 100% .

MRPL17 540 100% .

MRPL18 559 100% .

MRPL19 903 86% .

MRPL2 946 90% .

MRPL20 466 100% .

MRPL21 814 100% .

MRPL22 719 100% .

MRPL23 482 95% .

MRPL24 671 100% .

MRPL27 463 100% .

MRPL28 791 98% .

MRPL3 1087 100% .

MRPL30 506 100% .

MRPL32 579 100% .

MRPL33 416 100% .

MRPL34 287 76% .

MRPL35 781 100% .

MRPL36 316 100% .

MRPL37 1300 100% .

MRPL38 1179 93% .

MRPL39 1202 100% .

MRPL4 1159 99% .

MRPL40 637 91% .

MRPL41 418 99% .

MRPL42 449 100% .

MRPL43 2845 92% .

MRPL44 1015 100% .

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MRPL45 953 100% .

MRPL46 856 99% .

MRPL47 882 100% .

MRPL48 671 99% .

MRPL49 517 98% .

MRPL50 485 100% .

MRPL51 399 100% .

MRPL52 680 99% .

MRPL53 351 100% .

MRPL54 429 100% .

MRPL55 511 84% .

MRPL9 853 97% .

MRPS10 634 100% .

MRPS11 609 100% .

MRPS12 425 100% .

MRPS14 399 100% .

MRPS15 806 100% .

MRPS16 426 100% Combined Oxidative Phosphorylation Deficiency

MRPS16 426 100% Combined Oxidative Phosphorylation Deficiency 2

MRPS17 401 100% .

MRPS18A 764 95% .

MRPS18B 805 100% .

MRPS18C 453 100% .

MRPS2 907 92% .

MRPS21 272 100% .

MRPS22 1115 100% Combined Oxidative Phosphorylation Deficiency 5

MRPS23 593 100% .

MRPS24 520 78% .

MRPS25 538 92% .

MRPS26 634 68% .

MRPS27 1289 100% .

MRPS28 576 100% .

MRPS30 1340 99% .

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MRPS31 1216 100% .

MRPS33 329 100% .

MRPS34 669 52% .

MRPS35 1078 100% .

MRPS36 328 100% .

MRPS5 1341 95% .

MRPS6 390 100% .

MRPS7 749 99% .

MRPS9 1235 100% .

MRRF 895 100% .

MRS2 1376 100% .

MRTO4 752 98% .

MRVI1 3773 99% .

MS4A1 918 100% .

MS4A10 832 100% .

MS4A12 828 100% .

MS4A13 479 100% .

MS4A14 2060 100% .

MS4A15 874 71% .

MS4A2 763 100% .

MS4A3 835 100% .

MS4A4A 912 100% .

MS4A5 623 100% .

MS4A6A 1429 100% .

MS4A6E 456 100% .

MS4A7 747 100% .

MS4A8B 777 100% .

MSC 629 98% .

MSGN1 586 100% .

MSH2 2869 95% Lynch Syndrome

MSH2 2869 95% MSH2-Related Muir-Torre Syndrome

MSH2 2869 95% MSH2-Related Lynch Syndrome

MSH2 2869 95% MSH2-Related Turcot Syndrome

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MSH2 2869 95% Choriodal Dystrophy, Central Areolar 2

MSH3 3510 99% .

MSH4 2891 100% .

MSH5 3044 96% .

MSH6 4123 100% Lynch Syndrome

MSH6 4123 100% MSH6-Related Lynch Syndrome

MSH6 4123 100% MSH6-Related Turcot Syndrome

MSH6 4123 100% Choriodal Dystrophy, Central Areolar 2

MSI1 1145 76% .

MSI2 1229 95% .

MSL1 1088 100% .

MSL2 3338 100% .

MSL3 2242 97% .

MSLN 2128 97% .

MSLNL 3226 71% .

MSMB 495 100% .

MSMO1 1055 100% .

MSMP 432 100% .

MSN 1786 95% .

MSR1 1440 100% .

MSRA 822 98% .

MSRB2 569 79% .

MSRB3 683 96% .

MST1 2250 100% .

MST1R 4283 99% .

MST4 1295 97% .

MSTN 1140 100% Myostatin-Related Muscle Hypertrophy

MSTO1 1769 88% .

MSX1 920 74% Cleft Lip +/- Cleft Palate

MSX1 920 74% Tooth Agenesis, Selective, 1

MSX1 920 74% Witkop Syndrome

MSX1 920 74% Orofacial Cleft 5

MSX1 920 74% Choriodal Dystrophy, Central Areolar 2

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MSX2 812 66% MSX2-Related Craniosynostosis

MSX2 812 66% Parietal Foramina 1

MSX2 812 66% Enlarged Parietal Foramina/Cranium Bifidum

MSX2 812 66% Choriodal Dystrophy, Central Areolar 2

MT1A 198 100% .

MT1B 198 100% .

MT1E 198 100% .

MT1F 198 100% .

MT1G 198 100% .

MT1H 198 100% .

MT1M 198 100% .

MT1X 198 100% .

MT2A 198 100% .

MT3 219 100% .

MT4 201 100% .

MTA1 2388 92% .

MTA2 2079 100% .

MTA3 1604 98% .

MTAP 884 100% .

MTBP 2803 100% .

MTCH1 1167 71% .

MTCH2 964 98% .

MTCP1 336 100% .

MTCP1NB 215 100% .

MTDH 1797 99% .

MTERF 1208 100% .

MTERFD1 1282 100% .

MTERFD2 1162 98% .

MTERFD3 1162 100% .

MTF1 2302 100% .

MTF2 1942 100% .

MTFMT 1206 82% .

MTFP1 874 92% .

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MTFR1 1431 100% .

MTG1 1049 84% .

MTHFD1 2916 100% .

MTHFD1L 3186 92% .

MTHFD2 1085 100% .

MTHFD2L 1076 86% .

MTHFR 2015 100% MTHFR Deficiency

MTHFR 2015 100% MTHFR Thermolabile Variant

MTHFR 2015 100% Neural Tube Defects, Folate-Sensitive

MTHFR 2015 100% Choriodal Dystrophy, Central Areolar 2

MTHFS 890 86% .

MTHFSD 1524 86% .

MTIF2 2236 100% .

MTIF3 849 100% .

MTL5 1664 94% .

MTM1 1868 100% X-Linked Centronuclear Myopathy

MTM1 1868 100% Choriodal Dystrophy, Central Areolar 2

MTMR1 2058 93% .

MTMR10 2398 93% .

MTMR11 2636 97% .

MTMR12 2308 100% .

MTMR14 2029 95% .

MTMR2 2072 96% Charcot-Marie-Tooth Neuropathy Type 4

MTMR2 2072 96% Charcot-Marie-Tooth Neuropathy Type 4B1

MTMR3 3700 100% .

MTMR4 3660 100% .

MTMR6 1922 100% .

MTMR7 2039 99% .

MTMR8 2171 100% .

MTMR9 1690 100% .

MTNR1A 1061 87% .

MTNR1B 1097 100% .

MTO1 2330 92% .

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MTOR 7878 100% .

MTPAP 1785 100% .

MTPN 373 100% .

MTR 3930 99% Disorders of Intracellular Cobalamin Metabolism

MTR 3930 99% cblG

MTRF1 1374 100% .

MTRF1L 1376 97% .

MTRNR2L1 79 0% .

MTRNR2L10 79 0% .

MTRNR2L2 91 0% .

MTRNR2L3 79 0% .

MTRNR2L4 91 0% .

MTRNR2L5 79 0% .

MTRNR2L6 79 0% .

MTRNR2L7 79 0% .

MTRNR2L8 79 0% .

MTRR 2396 100% cblE

MTRR 2396 100% Disorders of Intracellular Cobalamin Metabolism

MTSS1 2324 99% .

MTSS1L 2304 78% .

MTTP 2757 100% Abetalipoproteinemia

MTUS1 4327 100% .

MTUS2 4254 95% .

MTX1 1433 56% .

MTX2 832 98% .

MTX3 1171 92% .

MUC1 2130 98% .

MUC12 16056 84% .

MUC13 1580 100% .

MUC15 1838 97% .

MUC16 43860 100% .

MUC17 13534 100% .

MUC2 8642 95% .

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MUC20 2246 85% .

MUC21 1713 100% .

MUC22 5338 0% .

MUC4 16339 94% .

MUC5B 17485 95% .

MUC6 7452 92% .

MUC7 1142 100% .

MUCL1 289 100% .

MUDENG 1505 100% .

MUL1 1075 93% .

MUM1 2188 74% .

MUM1L1 2095 100% .

MURC 1103 100% .

MUS81 1720 94% .

MUSK 2884 100% Congenital Myasthenic Syndromes

MUSK 2884 100% MUSK-Related Congenital Myasthenic Syndrome

MUSTN1 261 100% .

MUT 2301 100% Methylmalonic Acidemia

MUT 2301 100% MUT-Related Methylmalonic Acidemia

MUT 2301 100% Choriodal Dystrophy, Central Areolar 2

MUTED 775 99% .

MUTYH 2474 100% MUTYH-Associated Polyposis

MUTYH 2474 100% Choriodal Dystrophy, Central Areolar 2

MVD 1243 73% .

MVK 1231 100% Mevalonicaciduria

MVK 1231 100% Hyper IgD Syndrome

MVK 1231 100% Choriodal Dystrophy, Central Areolar 2

MVP 2738 97% .

MX1 2041 100% .

MX2 2200 100% .

MXD1 882 91% .

MXD3 726 72% .

MXD4 654 81% .

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MXI1 1126 91% .

MXRA5 8511 98% .

MXRA7 686 50% .

MXRA8 1369 72% .

MYADM 973 100% .

MYADML2 928 73% .

MYB 2718 99% .

MYBBP1A 4688 95% .

MYBL1 2323 100% .

MYBL2 2159 99% .

MYBPC1 3726 100% Arthrogryposis, Distal, Type 1B

MYBPC2 3538 100% .

MYBPC3 4016 97% Familial Hypertrophic Cardiomyopathy

MYBPC3 4016 97% Dilated Cardiomyopathy

MYBPC3 4016 97% MYBPC3-Related Dilated Cardiomyopathy

MYBPC3 4016 97% MYBPC3-Related Familial Hypertrophic Cardiomyopathy

MYBPC3 4016 97% Choriodal Dystrophy, Central Areolar 2

MYBPH 1474 97% .

MYBPHL 1097 100% .

MYC 1377 100% .

MYCBP 332 91% .

MYCBP2 14369 99% .

MYCBPAP 3031 99% .

MYCL1 2590 71% .

MYCN 1403 93% Feingold Syndrome 1

MYCT1 716 100% .

MYD88 1342 100% .

MYEF2 1871 96% .

MYEOV 950 98% .

MYEOV2 985 92% .

MYF5 780 100% .

MYF6 741 100% Centronuclear Myopathy 3

MYH1 5972 100% .

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MYH10 6091 100% .

MYH11 6139 100% Thoracic Aortic Aneurysms and Aortic Dissections

MYH11 6139 100% MYH11-Related Thoracic Aortic Aneurysms and Aortic Dissections

MYH13 5973 99% .

MYH14 6279 85% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

MYH14 6279 85% DFNA 4 Nonsyndromic Hearing Loss and Deafness

MYH15 6009 100% .

MYH2 5978 100% Inclusion Body Myopathy 3

MYH3 5979 100% Freeman-Sheldon Syndrome

MYH3 5979 100% Arthrogryposis Multiplex Congenita, Distal, Type 2B

MYH3 5979 100% MYH3-Related Arthrogryposis Multiplex Congenita, Distal, Type 2B

MYH3 5979 100% Arthrogryposis, Distal, Type 2A

MYH4 5972 100% .

MYH6 5968 100% Familial Hypertrophic Cardiomyopathy

MYH6 5968 100% Dilated Cardiomyopathy

MYH6 5968 100% MYH6-Related Familial Hypertrophic Cardiomyopathy

MYH6 5968 100% MYH6-Related Dilated Cardiomyopathy

MYH6 5968 100% Atrial Septal Defect 3

MYH7 5960 100% Familial Hypertrophic Cardiomyopathy

MYH7 5960 100% Dilated Cardiomyopathy

MYH7 5960 100% Laing Distal Myopathy

MYH7 5960 100% MYH7-Related Dilated Cardiomyopathy

MYH7 5960 100% MYH7-Related Familial Hypertrophic Cardiomyopathy

MYH7 5960 100% MYH7-Related Myosin Storage Myopathy

MYH7 5960 100% Scapuloperoneal Myopathy, MYH7-Related

MYH7 5960 100% Left Ventricular Noncompaction 5

MYH7 5960 100% Hypertrophic Cardiomyopathy, Midventricular, Digenic

MYH7 5960 100% Choriodal Dystrophy, Central Areolar 2

MYH7B 6124 93% .

MYH8 5966 100% Trismus-Pseudocamptodactyly Syndrome

MYH9 6043 100% May-Hegglin Anomaly

MYH9 6043 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

MYH9 6043 100% Sebastian Syndrome

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MYH9 6043 100% Fechtner Syndrome

MYH9 6043 100% Epstein Syndrome

MYH9 6043 100% MYH9-Related Disorders

MYH9 6043 100% DFNA17 Nonsyndromic Hearing Loss and Deafness

MYH9 6043 100% Choriodal Dystrophy, Central Areolar 2

MYL1 645 99% .

MYL10 713 74% .

MYL12A 528 100% .

MYL12B 531 100% .

MYL2 529 100% Familial Hypertrophic Cardiomyopathy

MYL2 529 100% MYL2-Related Familial Hypertrophic Cardiomyopathy

MYL3 612 100% Familial Hypertrophic Cardiomyopathy

MYL3 612 100% MYL3-Related Familial Hypertrophic Cardiomyopathy

MYL4 618 100% .

MYL5 932 79% .

MYL6 513 100% .

MYL6B 651 100% .

MYL7 556 100% .

MYL9 531 100% .

MYLIP 1366 95% .

MYLK 6139 97% Thoracic Aortic Aneurysms and Aortic Dissections

MYLK 6139 97% MYLK-Related Thoracic Aortic Aneurysms and Aortic Dissections

MYLK2 1839 97% Familial Hypertrophic Cardiomyopathy

MYLK2 1839 97% Hypertrophic Cardiomyopathy, Midventricular, Digenic

MYLK3 2512 100% .

MYLK4 1211 100% .

MYLPF 538 100% .

MYNN 1861 100% .

MYO10 6341 100% .

MYO15A 10849 89% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

MYO15A 10849 89% DFNB 3 Nonsyndromic Hearing Loss and Deafness

MYO16 6051 94% .

MYO18A 6329 100% .

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MYO18B 7872 99% .

MYO19 3411 100% .

MYO1A 3240 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

MYO1A 3240 100% DFNA48 Nonsyndromic Hearing Loss and Deafness

MYO1B 3531 100% .

MYO1C 3502 93% .

MYO1D 3109 98% .

MYO1E 3439 99% .

MYO1F 3409 95% .

MYO1G 3145 87% .

MYO1H 3193 100% .


MYO3A 4983 100% DFNB30 Nonsyndromic Hearing Loss and Deafness

MYO3B 4166 100% .

MYO5A 5732 99% .

MYO5B 5707 99% Diarrhea with Microvillus Atrophy 2

MYO5C 5393 99% .

MYO6 3994 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

MYO6 3994 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

MYO6 3994 100% DFNA22 Nonsyndromic Hearing Loss and Deafness

MYO6 3994 100% DFNB37 Nonsyndromic Hearing Loss and Deafness

MYO7A 7449 91% Usher Syndrome Type 1

MYO7A 7449 91% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant


MYO7A 7449 91% Usher Syndrome Type 1B

MYO7A 7449 91% DFNA11 Nonsyndromic Hearing Loss and Deafness

MYO7A 7449 91% DFNB 2 Nonsyndromic Hearing Loss and Deafness

MYO7B 6535 95% .

MYO9A 7811 100% .

MYO9B 6784 95% .

MYOC 1527 100% Glaucoma 1, Open Angle, A

MYOC 1527 100% Primary Open Angle Glaucoma (Adult Onset)

MYOC 1527 100% Choriodal Dystrophy, Central Areolar 2

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MYOCD 3340 100% .

MYOD1 975 99% .

MYOF 6402 100% .

MYOG 687 88% .

MYOM1 5206 100% .

MYOM2 4542 100% .

MYOM3 4458 95% .

MYOT 1639 100% Limb-Girdle Muscular Dystrophies, Autosomal Dominant

MYOT 1639 100% Limb-Girdle Muscular Dystrophy Type 1A

MYOT 1639 100% Myofibrillar Myopathy

MYOT 1639 100% Myotilinopathy

MYOT 1639 100% Spheroid Body Myopathy

MYOT 1639 100% Choriodal Dystrophy, Central Areolar 2

MYOZ1 920 100% .

MYOZ2 815 100% MYOZ2-Related Familial Hypertrophic Cardiomyopathy

MYOZ3 780 94% .

MYPN 4039 100% .

MYPOP 1208 45% .

MYRIP 2644 100% .

MYSM1 2567 100% .

MYT1 3450 99% .

MYT1L 3635 93% .

MYZAP 1453 95% .

MZB1 586 88% .

MZF1 2225 92% .

MZT1 261 98% .

MZT2A 489 54% .

MZT2B 489 50% .

N4BP1 2719 93% .

N4BP2 5377 100% .

N4BP2L1 1088 96% .

N4BP2L2 5231 100% .

N4BP3 1651 99% .

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N6AMT1 669 100% .

N6AMT2 661 100% .

NAA10 803 95% Ogden Syndrome

NAA11 694 100% .

NAA15 2681 100% .

NAA16 2992 100% .

NAA20 672 100% .

NAA25 3015 98% .

NAA30 1105 100% .

NAA35 2266 100% .

NAA38 307 89% .

NAA40 746 100% .

NAA50 530 100% .

NAA60 749 100% .

NAAA 1127 96% .

NAALAD2 2299 100% .

NAALADL1 2295 91% .

NAALADL2 2444 100% .

NAB1 1492 100% .

NAB2 1606 86% .

NACA 17455 99% .

NACA2 652 100% .

NACAD 4721 71% .

NACC1 1604 80% .

NACC2 1784 48% .

NADK 2366 92% .

NADKD1 1463 88% .

NADSYN1 2205 94% .

NAE1 1800 98% .

NAF1 1658 89% .

NAGA 1272 97% Schindler Disease

NAGA 1272 97% Kanzaki disease

NAGA 1272 97% Choriodal Dystrophy, Central Areolar 2

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NAGK 1213 85% .

NAGLU 2256 83% Mucopolysaccharidosis Type IIIB

NAGLU 2256 83% Choriodal Dystrophy, Central Areolar 2

NAGPA 1588 82% .

NAGS 1633 72% N-Acetylglutamate Synthase Deficiency

NAIF1 992 100% .

NAIP 4458 17% .

NALCN 5389 100% .

NAMPT 1520 96% .

NANOG 934 100% .

NANOGNB 583 90% .

NANOS1 883 37% .

NANOS2 421 100% .

NANOS3 587 99% .

NANP 755 100% .

NANS 1104 99% .

NAP1L1 1232 100% .

NAP1L2 1387 100% .

NAP1L3 1525 100% .

NAP1L4 1184 100% .

NAP1L5 553 100% .

NAPA 932 100% .

NAPB 941 93% .

NAPEPLD 1198 100% .

NAPG 987 100% .

NAPRT1 1669 80% .

NAPSA 1299 100% .

NARF 1705 91% .

NARFL 1475 88% .

NARG2 3133 100% .

NARS 1703 100% .

NARS2 1589 98% .

NASP 2427 97% .

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NAT1 1954 90% .

NAT10 3366 100% .

NAT14 629 29% .

NAT16 1122 92% .

NAT2 877 100% .

NAT6 1864 100% .

NAT8 688 100% .

NAT8B 688 100% .

NAT8L 921 57% .

NAT9 648 100% .

NAV1 6142 99% .

NAV2 7866 99% .

NAV3 7248 100% .

NBAS 7324 100% .

NBEA 9195 100% .

NBEAL1 8301 100% .

NBEAL2 8481 99% Gray Platelet Syndrome

NBL1 860 86% .

NBN 2329 100% Nijmegen Breakage Syndrome

NBN 2329 100% Choriodal Dystrophy, Central Areolar 2

NBPF1 3517 100% .

NBPF10 10998 49% .

NBPF11 5688 14% .

NBPF14 2854 80% .

NBPF15 2073 74% .

NBPF16 4146 54% .

NBPF24 5426 14% .

NBPF3 2126 98% .

NBPF4 1973 33% .

NBPF6 2064 36% .

NBPF7 1298 100% .

NBPF9 2907 93% .

NBR1 2981 94% .

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NCALD 594 100% .

NCAM1 2912 100% .

NCAM2 2586 100% .

NCAN 4022 96% .

NCAPD2 4330 100% .

NCAPD3 4637 100% .

NCAPG 3132 97% .

NCAPG2 3540 100% .

NCAPH 2298 96% .

NCAPH2 2190 89% .

NCBP1 2465 99% .

NCBP2 816 100% .

NCCRP1 852 61% .

NCDN 2363 94% .

NCEH1 1698 100% .

NCF1 1217 59% Chronic Granulomatous Disease (3292)

NCF1 1217 59% Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type I

NCF1 1217 59% Chronic Granulomatous Disease

NCF1 1217 59% Choriodal Dystrophy, Central Areolar 2

NCF2 1641 100% Chronic Granulomatous Disease (3292)

NCF2 1641 100% Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type II


NCF2 1641 100% Choriodal Dystrophy, Central Areolar 2

NCF4 2193 98% Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type III


NCK1 1184 97% .

NCK2 1354 100% .

NCKAP1 3533 100% .

NCKAP1L 3623 100% .

NCKAP5 5802 100% .

NCKAP5L 4049 98% .

NCKIPSD 2337 86% .

NCL 2189 100% .

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NCLN 1752 77% .

NCOA1 4626 100% .

NCOA2 4479 100% .

NCOA3 5229 100% .

NCOA4 2162 95% .

NCOA5 1768 100% .

NCOA6 6244 100% .

NCOA7 4099 100% .

NCOR1 8825 100% .

NCOR2 8253 78% .

NCR1 998 100% .

NCR2 1343 99% .

NCR3 745 100% .

NCS1 615 89% .

NCSTN 2198 100% .

NDC80 1993 100% .

NDE1 1228 100% Lissencephaly 4

NDEL1 1207 100% .

NDFIP1 694 90% .

NDFIP2 1168 72% .

NDN 970 100% .

NDNF 1719 100% .

NDNL2 919 99% .

NDOR1 2397 97% .

NDP 410 68% NDP-Related Retinopathies

NDP 410 68% Familial Exudative Vitreoretinopathy

NDP 410 68% Choriodal Dystrophy, Central Areolar 2

NDRG1 1245 81% Charcot-Marie-Tooth Neuropathy Type 4

NDRG1 1245 81% Charcot-Marie-Tooth Neuropathy Type 4D

NDRG2 1176 100% .

NDRG3 1188 100% .

NDRG4 1449 83% .

NDST1 2705 100% .

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NDST2 2704 99% .

NDST3 2674 100% .

NDST4 2671 100% .

NDUFA1 225 100% Leigh Syndrome (nuclear DNA mutation)

NDUFA1 225 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)



NDUFA12 454 100% .

NDUFA13 455 84% .


NDUFA3 271 98% .

NDUFA4 262 100% .

NDUFA4L2 280 74% .

NDUFA5 371 100% .

NDUFA6 477 100% .

NDUFA7 358 86% .

NDUFA8 535 100% .

NDUFA9 1178 98% .

NDUFAB1 487 100% .

NDUFAF1 1000 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)

NDUFAF2 526 100% Leigh Syndrome (nuclear DNA mutation)




NDUFB1 330 100% .

NDUFB10 535 86% .

NDUFB11 669 77% .

NDUFB2 330 87% .

NDUFB3 305 100% .

NDUFB4 625 100% .

NDUFB5 719 100% .

NDUFB6 403 100% .

NDUFB7 426 49% .

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NDUFB8 581 100% .

NDUFB9 556 100% .

NDUFC1 243 78% .

NDUFC2 668 89% .

NDUFC2-KCTD14 1000 93% .

NDUFS1 2498 100% Leigh Syndrome (nuclear DNA mutation)

NDUFS1 2498 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)

NDUFS1 2498 100% Choriodal Dystrophy, Central Areolar 2






NDUFS5 329 100% .








NDUFV1 1511 95% Leigh Syndrome (nuclear DNA mutation)

NDUFV1 1511 95% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)

NDUFV1 1511 95% Choriodal Dystrophy, Central Areolar 2

NDUFV2 782 97% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)

NDUFV3 1438 96% .

NEB 26615 87% Nemaline Myopathy

NEB 26615 87% NEB-Related Nemaline Myopathy

NEB 26615 87% Choriodal Dystrophy, Central Areolar 2

NEBL 3711 100% .

NECAB1 1108 95% .

NECAB2 1213 83% .

NECAB3 1719 71% .

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NECAP1 860 100% .

NECAP2 1185 99% .

NEDD1 2333 99% .

NEDD4 4371 100% .

NEDD4L 3146 99% .

NEDD8 262 100% .

NEDD8-MDP1 610 100% .

NEDD9 2619 100% .

NEFH 3079 74% .

NEFL 1974 99% Charcot-Marie-Tooth Neuropathy Type 1

NEFL 1974 99% Charcot-Marie-Tooth Neuropathy Type 2

NEFL 1974 99% Charcot-Marie-Tooth Neuropathy Type 2E/1F

NEFL 1974 99% Charcot-Marie-Tooth Neuropathy Type 1F/2E

NEFM 2892 99% .

NEGR1 1093 100% .

NEIL1 1209 100% .

NEIL2 1524 100% .

NEIL3 1858 100% .

NEK1 3997 100% Short Rib Polydactyly Syndrome, Majewski Type

NEK10 2231 98% .

NEK11 2244 100% .

NEK2 1500 100% .

NEK3 1581 100% .

NEK4 2590 91% .

NEK5 2207 96% .

NEK6 1286 94% .

NEK7 945 100% .

NEK8 2139 98% Nephronophthisis 9

NEK9 3028 93% .

NELF 1667 75% NELF-Related Hypogonadotropic Hypogonadism

NELL1 2513 100% .

NELL2 2873 94% .

NEMF 3363 100% .

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NENF 535 66% .

NEO1 4502 97% .

NES 4882 97% .

NET1 1936 93% .

NETO1 1680 100% .

NETO2 1663 98% .

NEU1 1272 100% Mucolipidosis I

NEU2 1151 100% .

NEU3 1398 93% .

NEU4 1932 93% .

NEURL 1749 80% .

NEURL1B 1688 26% .

NEURL2 866 93% .

NEURL4 4985 98% .

NEUROD1 1075 100% Maturity-Onset Diabetes of the Young Type 6

NEUROD2 1153 96% .

NEUROD4 1000 100% .

NEUROD6 1018 100% .

NEUROG1 718 99% .

NEUROG2 823 99% .

NEUROG3 649 100% .

NEXN 2076 100% Dilated Cardiomyopathy

NEXN 2076 100% NEXN-Related Dilated Cardiomyopathy

NEXN 2076 100% NEXN-Related Familial Hypertrophic Cardiomyopathy

NF1 8958 99% Neurofibromatosis 1

NF1 8958 99% Neurofibromatosis-Noonan Syndrome

NF1 8958 99% Watson Syndrome

NF1 8958 99% Familial Spinal Neurofibromatosis

NF1 8958 99% Choriodal Dystrophy, Central Areolar 2

NF2 1892 92% Neurofibromatosis 2

NF2 1892 92% Choriodal Dystrophy, Central Areolar 2

NFAM1 837 91% .

NFASC 4406 98% .

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NFAT5 5357 100% .

NFATC1 4174 95% .

NFATC2 2940 97% .

NFATC2IP 1292 70% .

NFATC3 3624 97% .

NFATC4 5548 94% .

NFE2 1130 100% .

NFE2L1 2339 100% .

NFE2L2 2305 98% .

NFE2L3 2101 80% .

NFIA 1922 88% .

NFIB 1641 100% .

NFIC 1668 94% .

NFIL3 1393 100% .

NFIX 1362 95% .

NFKB1 3047 100% .

NFKB2 2920 83% .

NFKBIA 978 98% Ectodermal Dysplasia, Anhidrotic, with T-cell Immunodeficiency

NFKBIB 1253 91% .

NFKBID 978 96% .

NFKBIE 1527 55% .

NFKBIL1 1669 83% .

NFKBIZ 2349 90% .

NFRKB 4395 100% .

NFS1 1426 93% .

NFU1 1024 99% Multiple Mitochondrial Dysfunctions Syndrome 1

NFX1 3684 98% .

NFXL1 2824 92% .

NFYA 1080 100% .

NFYB 652 100% .

NFYC 1392 100% .

NGB 472 70% .

NGDN 1070 100% .

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NGEF 2300 95% .

NGF 730 100% Hereditary Sensory and Autonomic Neuropathy Type V

NGFR 1308 92% .

NGFRAP1 680 100% .

NGLY1 2298 98% .

NGRN 888 100% .

NHEJ1 928 100% .

NHLH1 406 100% .

NHLH2 412 97% .

NHLRC1 1192 100% Progressive Myoclonus Epilepsy, Lafora Type

NHLRC1 1192 100% NHLRC1-Related Lafora Disease

NHLRC2 2225 92% .

NHLRC3 1072 100% .

NHLRC4 376 100% .

NHP2 608 100% Dyskeratosis Congenita

NHP2 608 100% NHP2-Related Dyskeratosis Congenita

NHP2L1 406 100% .

NHS 5030 90% Nance-Horan Syndrome

NHS 5030 90% Cataract, Congenital, X-linked

NHSL1 5059 97% .

NHSL2 3710 55% .

NICN1 666 97% .

NID1 3824 98% .

NID2 4216 100% .

NIF3L1 1787 100% .

NIM1 1323 100% .

NIN 6865 97% .

NINJ1 471 83% .

NINJ2 579 100% .

NINL 4241 100% .

NIP7 563 100% .

NIPA1 1062 93% Spastic Paraplegia 6

NIPA2 1103 100% .

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NIPAL1 1257 97% .

NIPAL2 1155 88% .

NIPAL3 1265 100% .

NIPAL4 1425 86% Autosomal Recessive Congenital Ichthyosis

NIPAL4 1425 86% NIPAL4-Related Autosomal Recessive Congenital Ichthyosis

NIPBL 8882 99% Cornelia de Lange Syndrome

NIPBL 8882 99% NIPBL-Related Cornelia de Lange Syndrome

NIPSNAP1 997 73% .

NIPSNAP3A 768 100% .

NIPSNAP3B 768 98% .

NISCH 4599 99% .

NIT1 1657 100% .

NIT2 871 100% .

NKAIN1 652 83% .

NKAIN2 655 100% .

NKAIN3 618 91% .

NKAIN4 655 58% .

NKAP 1284 100% .

NKAPL 1213 100% .

NKD1 1453 88% .

NKD2 1396 72% .

NKG7 514 100% .

NKIRAS1 591 100% .

NKIRAS2 1324 100% .

NKPD1 2515 57% .

NKRF 2265 99% .

NKTR 4453 99% .

NKX1-2 941 1% .

NKX2-1 1608 78% Benign Hereditary Chorea

NKX2-1 1608 78% Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress

NKX2-2 830 96% .

NKX2-3 1103 68% .

NKX2-4 1073 60% .

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NKX2-5 1118 88% Heterotaxy Syndrome

NKX2-5 1118 88% Isolated Nonsyndromic Congenital Heart Disease/Defects

NKX2-5 1118 88% Choriodal Dystrophy, Central Areolar 2

NKX2-6 668 51% .

NKX2-8 728 71% .

NKX3-1 1293 64% .

NKX3-2 1010 84% Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

NKX6-1 1116 63% .

NKX6-2 846 70% .

NKX6-3 416 98% .

NLE1 1650 97% .

NLGN1 2492 100% .

NLGN2 2536 84% .

NLGN3 2575 97% Autistic Disorder

NLGN3 2575 97% Autism Spectrum Disorders

NLGN4X 2471 100% Autistic Disorder

NLGN4X 2471 100% Autism Spectrum Disorders

NLGN4X 2471 100% NLGN4-Related X-Linked Mental Retardation

NLGN4Y 2782 100% .

NLK 1628 100% .

NLN 2167 99% .

NLRC3 3356 94% .

NLRC4 3107 100% .

NLRC5 5789 98% .

NLRP1 4662 94% .

NLRP10 1976 100% .

NLRP11 3138 100% .

NLRP12 3322 97% Familial Cold Autoinflammatory Syndrome 2

NLRP13 3176 100% .

NLRP14 3326 100% .

NLRP2 3805 100% .

NLRP3 3434 100% Chronic Infantile Neurological Cutaneous and Articular Syndrome

NLRP3 3434 100% Familial Cold Autoinflammatory Syndrome 1

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NLRP3 3434 100% Muckle-Wells Syndrome

NLRP3 3434 100% Choriodal Dystrophy, Central Areolar 2

NLRP4 3021 100% .

NLRP5 3663 100% .

NLRP6 2711 77% .

NLRP7 3356 100% Hydatidiform Mole, Recurrent

NLRP8 3187 100% .

NLRP9 3012 100% .

NLRX1 3128 100% .

NMB 626 91% .

NMBR 1185 100% .

NMD3 1572 100% .

NME1 688 100% .

NME1-NME2 836 100% .

NME2 601 100% .

NME3 530 74% .

NME4 584 84% .

NME5 659 100% .

NME6 609 98% .

NME7 1291 100% .

NME9 828 100% .

NMI 952 100% .

NMNAT1 856 100% .

NMNAT2 1042 97% .

NMNAT3 660 100% .

NMRAL1 920 100% .

NMS 502 100% .

NMT1 1539 100% .

NMT2 1545 100% .

NMU 561 80% .

NMUR1 1293 99% .

NMUR2 1264 100% .

NNAT 258 93% .

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NNMT 807 100% .

NNT 3345 100% .

NOA1 2125 100% .

NOB1 1275 99% .

NOBOX 1716 89% .

NOC2L 2326 95% .

NOC3L 2487 100% .

NOC4L 1611 76% .

NOD1 2906 100% .

NOD2 3171 98% Crohn Disease

NOD2 3171 98% Blau Syndrome

NOD2 3171 98% Choriodal Dystrophy, Central Areolar 2

NODAL 1056 84% Holoprosencephaly

NODAL 1056 84% Heterotaxy Syndrome

NODAL 1056 84% NODAL-Related Visceral Heterotaxy

NODAL 1056 84% NODAL-Related Holoprosencephaly

NOG 703 96% Multiple Synostoses Syndrome 1

NOG 703 96% Proximal Symphalangism

NOG 703 96% Tarsal-Carpal Coalition Syndrome

NOG 703 96% Stapes Ankylosis with Broad Thumb and Toes

NOG 703 96% Brachydactyly, Type B2

NOG 703 96% Choriodal Dystrophy, Central Areolar 2

NOL10 2151 100% .

NOL11 2232 100% .

NOL12 666 95% .

NOL3 1036 88% .

NOL4 2295 98% .

NOL6 3545 99% .

NOL7 806 81% .

NOL8 3651 100% .

NOL9 2157 88% .

NOLC1 2152 100% .

NOM1 2627 85% .

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NOMO1 3793 93% .

NOMO2 4072 49% .

NOMO3 3793 50% .

NONO 1654 96% .

NOP10 203 100% Dyskeratosis Congenita

NOP10 203 100% NOP10-Related Dyskeratosis Congenita

NOP14 2646 96% .

NOP16 557 100% .

NOP2 2487 100% .

NOP56 1833 99% .

NOP58 1650 100% .

NOS1 4567 99% .

NOS1AP 1917 99% .

NOS2 3566 93% .

NOS3 3998 82% Cardiovascular Disease Risk Factor (Nitric-Oxide Synthase)

NOSIP 938 94% .

NOSTRIN 1827 100% .

NOTCH1 7804 81% Left Ventricular Outflow Tract Obstruction (LVOTO)

NOTCH2 7689 100% NOTCH2-Related Alagille Syndrome

NOTCH2 7689 100% Alagille Syndrome

NOTCH2 7689 100% Hajdu-Cheney Syndrome

NOTCH2NL 727 100% .

NOTCH3 7098 74% CADASIL

NOTCH3 7098 74% Choriodal Dystrophy, Central Areolar 2

NOTCH4 6132 96% .

NOTO 768 46% .

NOTUM 1535 80% .

NOV 1094 100% .

NOVA1 1575 92% .

NOVA2 1495 75% .

NOX1 1747 100% .

NOX3 1759 100% .

NOX4 1909 100% .

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NOX5 2729 100% .

NOXA1 1670 62% .

NOXO1 1353 66% .

NOXRED1 1175 100% .

NPAS1 1817 66% .

NPAS2 2555 100% .

NPAS3 2992 90% .

NPAS4 2441 100% .

NPAT 4356 100% .

NPB 386 35% .

NPBWR1 991 98% .

NPBWR2 1006 100% .

NPC1 3937 98% Niemann-Pick Disease Type C1

NPC1 3937 98% Niemann-Pick Disease Type C

NPC1 3937 98% Choriodal Dystrophy, Central Areolar 2

NPC1L1 4160 95% .

NPC2 476 96% Niemann-Pick Disease Type C2

NPC2 476 96% Niemann-Pick Disease Type C

NPC2 476 96% Choriodal Dystrophy, Central Areolar 2

NPDC1 1014 57% .

NPEPL1 1620 77% .

NPEPPS 2852 99% .

NPFF 354 100% .

NPFFR1 1309 71% .

NPFFR2 1930 100% .

NPHP1 2589 100% Nephronophthisis 1

NPHP1 2589 100% Joubert Syndrome and Related Disorders

NPHP1 2589 100% Senior-Loken Syndrome

NPHP1 2589 100% NPHP1-Related Joubert Syndrome

NPHP1 2589 100% Senior-Loken Syndrome 1

NPHP1 2589 100% Choriodal Dystrophy, Central Areolar 2

NPHP3 4101 100% Meckel Syndrome


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NPHP3 4101 100% Renal-Hepatic-Pancreatic Dysplasia

NPHP3 4101 100% NPHP3-Related Meckel Syndrome


NPHP4 4397 98% Senior-Loken Syndrome

NPHP4 4397 98% Senior-Loken Syndrome 4

NPHP4 4397 98% Choriodal Dystrophy, Central Areolar 2

NPHS1 3842 95% Congenital Finnish Nephrosis

NPHS1 3842 95% Choriodal Dystrophy, Central Areolar 2

NPHS2 1184 91% Steroid-Resistant Nephrotic Syndrome

NPHS2 1184 91% Choriodal Dystrophy, Central Areolar 2

NPIP 1085 58% .

NPIPL3 7816 38% .

NPL 1007 100% .

NPLOC4 1895 95% .

NPM1 942 100% .

NPM2 677 95% .

NPM3 557 100% .

NPNT 1895 88% .

NPPA 468 100% .

NPPB 417 100% .

NPPC 389 70% .

NPR1 3274 78% .

NPR2 3299 100% Acromesomelic Dysplasia, Maroteaux Type

NPR3 1744 92% .

NPRL2 1187 99% .

NPRL3 2053 89% .

NPS 282 100% .

NPSR1 1265 100% .

NPTN 1255 100% .

NPTX1 1319 88% .

NPTX2 1316 67% .

NPTXR 1523 62% .

NPVF 603 100% .

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NPW 506 41% .

NPY 306 100% .

NPY1R 1163 100% .

NPY2R 1150 100% .

NPY5R 1342 100% .

NQO1 849 100% .

NQO2 720 100% .

NR0B1 1421 93% X-Linked Adrenal Hypoplasia Congenita

NR0B1 1421 93% Isolated X-Linked Adrenal Hypoplasia Congenita

NR0B1 1421 93% Complex Glycerol Kinase Deficiency

NR0B1 1421 93% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

NR0B1 1421 93% NR0B1-Related 46,XY DSD and 46,XY CGD

NR0B1 1421 93% Choriodal Dystrophy, Central Areolar 2

NR0B2 782 100% .

NR1D1 2040 100% .

NR1D2 2043 99% .

NR1H2 1415 87% .

NR1H3 1573 99% .

NR1H4 1600 100% .

NR1I2 1960 100% .

NR1I3 1483 100% .

NR2C1 1942 100% .

NR2C2 1904 100% .

NR2C2AP 440 100% .

NR2E1 1194 96% .

NR2E3 1636 93% Retinitis Pigmentosa, Autosomal Recessive

NR2E3 1636 93% Retinitis Pigmentosa

NR2E3 1636 93% NR2E3-Related Retinitis Pigmentosa

NR2E3 1636 93% Enhanced S-Cone Syndrome

NR2F1 1284 89% .

NR2F2 1836 93% .

NR2F6 1231 60% .

NR3C1 11046 100% Glucocorticoid Resistance

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NR3C2 2987 100% Pseudohypoaldosteronism Type 1, Dominant

NR3C2 2987 100% Choriodal Dystrophy, Central Areolar 2

NR4A1 2701 100% .

NR4A2 1821 100% Parkinson Disease

NR4A3 3232 79% .

NR5A1 1410 90% NR5A1-Related 46,XY DSD and 46,XY CGD

NR5A1 1410 90% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

NR5A1 1410 90% Spermatogenic Failure 8

NR5A1 1410 90% Choriodal Dystrophy, Central Areolar 2

NR5A2 1658 100% .

NR6A1 1962 92% .

NRAP 5361 100% .

NRARP 349 99% .

NRAS 586 100% Noonan Syndrome

NRAS 586 100% NRAS-Related Noonan Syndrome

NRBF2 880 100% .

NRBP1 1676 100% .

NRBP2 1578 53% .

NRCAM 4035 100% .

NRD1 4085 100% .

NREP 471 46% .

NRF1 1552 100% .

NRG1 4331 87% .

NRG2 2684 61% .

NRG3 2402 95% .

NRG4 368 100% .

NRGN 245 92% .

NRIP1 3481 100% .

NRIP2 870 100% .

NRIP3 754 78% .

NRK 4865 99% .

NRL 722 68% Retinitis Pigmentosa, Autosomal Dominant

NRL 722 68% Retinitis Pigmentosa

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NRL 722 68% NRL-Related Retinitis Pigmentosa

NRM 805 87% .

NRN1 441 100% .

NRN1L 510 99% .

NRP1 3311 98% .

NRP2 3597 100% .

NRSN1 596 100% .

NRSN2 623 100% .

NRTN 602 48% Hirschsprung Disease

NRTN 602 48% NRTN-Related Hirschsprung Disease

NRTN 602 48% Choriodal Dystrophy, Central Areolar 2

NRXN1 5048 99% Pitt-Hopkins-Like Syndrome 2

NRXN2 5545 76% .

NRXN3 3692 100% .

NSA2 807 100% .

NSD1 10041 100% Sotos Syndrome

NSD1 10041 100% Weaver Syndrome 1

NSDHL 1150 100% NSDHL-Related Disorders

NSF 2319 56% .

NSFL1C 1398 93% .

NSL1 1031 91% .

NSMAF 3034 93% .

NSMCE1 829 100% .

NSMCE2 768 100% .

NSMCE4A 1277 78% .

NSRP1 1705 99% .

NSUN2 2380 96% Mental Retardation, Nonsyndromic

NSUN3 1047 100% .

NSUN4 1527 100% .

NSUN5 1926 100% .

NSUN6 1454 100% .

NSUN7 2201 100% .

NT5C 785 78% .

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NT5C1A 1131 100% .

NT5C1B 2548 100% .

NT5C1B-RDH14 3322 100% .

NT5C2 1754 100% .

NT5C3 1087 98% .

NT5C3L 939 97% .

NT5DC1 1416 100% .

NT5DC2 1855 86% .

NT5DC3 1703 88% .

NT5E 1761 97% .

NT5M 707 89% .

NTAN1 973 91% .

NTF3 1620 100% .

NTF4 637 85% .

NTHL1 963 96% .

NTM 1547 100% .

NTN1 1839 79% .

NTN3 1767 71% .

NTN4 1927 97% .

NTN5 1494 70% .

NTNG1 1782 99% .

NTNG2 1621 89% .

NTPCR 593 100% .

NTRK1 2667 84% Hereditary Sensory and Autonomic Neuropathy Type IV

NTRK1 2667 84% NTRK1-Related Familial Medullary Thyroid Carcinoma

NTRK1 2667 84% Choriodal Dystrophy, Central Areolar 2

NTRK2 2664 100% .

NTRK3 2854 100% .

NTS 529 100% .

NTSR1 1273 97% .

NTSR2 1249 84% .

NUAK1 2014 98% .

NUAK2 1915 100% .

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NUB1 1971 100% .

NUBP1 1007 95% .

NUBP2 844 95% .

NUBPL 1102 98% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)

NUCB1 1434 100% .

NUCB2 1311 100% .

NUCKS1 760 100% .

NUDC 1032 92% .

NUDCD1 1827 98% .

NUDCD2 490 100% .

NUDCD3 1110 99% .

NUDT1 724 91% .

NUDT10 503 100% .

NUDT11 503 100% .

NUDT12 1413 100% .

NUDT13 1091 100% .

NUDT14 689 88% .

NUDT15 507 72% .

NUDT16 2097 85% .

NUDT16L1 1279 81% .

NUDT17 1019 77% .

NUDT18 1322 61% .

NUDT19 1140 85% .

NUDT2 452 100% .

NUDT21 712 100% .

NUDT22 932 97% .

NUDT3 539 100% .

NUDT4 658 79% .

NUDT5 696 100% .

NUDT6 1030 100% .

NUDT7 1106 100% .

NUDT8 535 96% .

NUDT9 1329 100% .

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NUF2 1447 100% .

NUFIP1 1528 100% .

NUFIP2 2104 100% .

NUMA1 6448 100% .

NUMB 1996 100% .

NUMBL 1870 65% .

NUP107 2890 100% .

NUP133 3575 100% .

NUP153 4516 100% .

NUP155 4458 100% .

NUP160 4455 100% .

NUP188 5426 99% .

NUP205 6211 100% .

NUP210 5824 98% .

NUP210L 5827 100% .

NUP214 6417 100% .

NUP35 1017 100% .

NUP37 1017 100% .

NUP43 1175 100% .

NUP50 1523 100% .

NUP54 1572 97% .

NUP62 1573 100% .

NUP62CL 579 100% .

NUP85 2047 100% .

NUP88 2294 100% .

NUP93 2677 100% .

NUP98 5936 100% .

NUPL1 1864 100% .

NUPL2 1300 100% .

NUPR1 506 100% .

NUS1 902 60% .

NUSAP1 1854 100% .

NUTF2 400 100% .

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NVL 2862 100% .

NWD1 4367 98% .

NXF1 2168 100% .

NXF2 3930 29% .

NXF2B 3930 29% .

NXF3 1672 100% .

NXF5 1154 99% .

NXN 1340 89% .

NXNL1 647 70% .

NXNL2 589 77% .

NXPH1 824 100% .

NXPH2 803 93% .

NXPH3 767 93% .

NXPH4 935 97% .

NXT1 427 100% .

NXT2 794 98% .

NYAP1 2550 79% .

NYAP2 1982 100% .

NYNRIN 5729 99% .

NYX 1454 41% Congenital Stationary Night Blindness, X-Linked

NYX 1454 41% NYX-Related X-Linked Congenital Stationary Night Blindness

O3FAR1 1150 93% .

OAF 838 89% .

OAS1 1948 100% .

OAS2 2809 100% .

OAS3 3328 99% .

OASL 1721 100% .

OAT 1585 100% Ornithine Aminotransferase Deficiency

OAT 1585 100% Choriodal Dystrophy, Central Areolar 2

OAZ1 708 95% .

OAZ2 591 96% .

OAZ3 911 100% .

OBFC1 1143 100% .

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OBFC2A 715 100% .

OBFC2B 660 100% .

OBP2A 537 98% .

OBP2B 537 98% .

OBSCN 25533 93% .

OBSL1 6227 88% 3-M Syndrome

OBSL1 6227 88% 3-M Syndrome, OBSL1-Related

OC90 1486 100% .

OCA2 2609 100% Oculocutaneous Albinism Type 2

OCA2 2609 100% Choriodal Dystrophy, Central Areolar 2

OCEL1 819 98% .

OCIAD1 1064 99% .

OCIAD2 575 100% .

OCLM 139 100% .

OCLN 1767 97% Band-Like Calcification with Simplified Gyration and Polymicrogyria

OCM 346 100% .

OCM2 346 100% .

OCRL 2802 98% Lowe Syndrome

OCRL 2802 98% Dent Disease

OCRL 2802 98% Dent Disease 2

OCRL 2802 98% Choriodal Dystrophy, Central Areolar 2

ODAM 880 100% .

ODC1 1426 100% .

ODF1 761 100% .

ODF2 3806 97% .

ODF2L 2155 100% .

ODF3 789 90% .

ODF3B 786 57% .

ODF3L1 841 100% .

ODF3L2 886 42% .

ODF4 786 100% .

ODZ1 8484 100% .

ODZ2 8414 100% .

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ODZ3 8208 100% .

ODZ4 8430 92% .

OFD1 3131 100% Oral-Facial-Digital Syndrome Type I

OFD1 3131 100% Joubert Syndrome and Related Disorders

OFD1 3131 100% OFD1-Related Joubert Syndrome

OFD1 3131 100% Simpson-Golabi-Behmel Syndrome, Type 2

OFD1 3131 100% Choriodal Dystrophy, Central Areolar 2

OGDH 3595 100% .

OGDHL 3280 100% .

OGFOD1 1681 100% .

OGFOD2 897 100% .

OGFR 2062 68% .

OGFRL1 1384 93% .

OGG1 2628 99% .

OGN 921 100% .

OGT 3414 99% .

OIP5 710 100% .

OIT3 1674 100% .

OLA1 1411 100% .

OLAH 989 84% .

OLFM1 1438 100% .

OLFM2 1389 94% .

OLFM3 1401 100% .

OLFM4 1553 100% .

OLFML1 1221 100% .

OLFML2A 1991 93% .

OLFML2B 2285 100% .

OLFML3 1233 100% .

OLIG1 820 32% .

OLIG2 976 53% .

OLIG3 823 97% .

OLR1 992 100% .

OMA1 1607 100% .

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OMD 1274 100% .

OMG 1327 100% .

OMP 496 100% .

ONECUT1 1406 98% .

ONECUT2 1523 85% .

ONECUT3 1493 28% .

OOEP 462 100% .

OPA1 3168 99% Optic Atrophy Type 1

OPA1 3168 99% Optic Atrophy Type 1 and Deafness

OPA1 3168 99% Choriodal Dystrophy, Central Areolar 2

OPA3 953 100% 3-Methylglutaconic Aciduria Type 3

OPA3 953 100% Optic Atrophy Type 3

OPA3 953 100% Choriodal Dystrophy, Central Areolar 2

OPALIN 463 100% .

OPCML 1302 100% .

OPHN1 2501 99% X-Linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance

OPLAH 4140 90% .

OPN1LW 1119 86% Blue-Mono-Cone-Monochromatic Type Colorblindness

OPN1LW 1119 86% Red-Green Color Vision Defects

OPN1LW 1119 86% Choriodal Dystrophy, Central Areolar 2

OPN1MW 2238 34% Blue-Mono-Cone-Monochromatic Type Colorblindness

OPN1MW 2238 34% Red-Green Color Vision Defects

OPN1MW 2238 34% Choriodal Dystrophy, Central Areolar 2

OPN1MW2 2238 34% .

OPN1SW 1067 100% .

OPN3 1225 95% .

OPN4 1514 90% .

OPN5 1093 99% .

OPRD1 1131 89% .

OPRK1 1155 99% .

OPRL1 1125 100% .

OPRM1 3533 88% .

OPTC 1023 100% .

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OPTN 1786 100% Primary Open Angle Glaucoma (Adult Onset)

OPTN 1786 100% Amyotrophic Lateral Sclerosis

OPTN 1786 100% OPTN-Related Amyotrophic Lateral Sclerosis

OR10A2 916 100% .

OR10A3 949 100% .

OR10A4 952 100% .

OR10A5 958 100% .

OR10A6 949 100% .

OR10A7 955 100% .

OR10AD1 958 100% .

OR10AG1 910 100% .

OR10C1 943 100% .

OR10G2 937 100% .

OR10G3 946 100% .

OR10G4 940 100% .

OR10G7 940 100% .

OR10G8 940 100% .

OR10G9 940 100% .

OR10H1 961 100% .

OR10H2 952 100% .

OR10H3 955 100% .

OR10H4 955 100% .

OR10H5 952 100% .

OR10J1 967 100% .

OR10J3 994 100% .

OR10J5 934 100% .

OR10K1 946 100% .

OR10K2 943 100% .

OR10P1 946 100% .

OR10Q1 964 100% .

OR10R2 1012 100% .

OR10S1 1000 100% .

OR10T2 949 100% .

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OR10V1 934 100% .

OR10W1 922 100% .

OR10X1 985 100% .

OR10Z1 946 100% .

OR11A1 952 100% .

OR11G2 1042 100% .

OR11H1 985 100% .

OR11H12 985 100% .

OR11H2 985 100% .

OR11H4 979 100% .

OR11H6 997 100% .

OR11L1 973 100% .

OR12D2 928 100% .

OR12D3 955 100% .

OR13A1 991 100% .

OR13C2 961 100% .

OR13C3 1048 100% .

OR13C4 961 100% .

OR13C5 961 100% .

OR13C8 967 100% .

OR13C9 961 100% .

OR13D1 1045 100% .

OR13F1 964 100% .

OR13G1 928 100% .

OR13H1 931 100% .

OR13J1 943 100% .

OR14A16 934 100% .

OR14C36 943 100% .

OR14I1 940 100% .

OR14J1 970 100% .

OR1A1 934 100% .

OR1A2 934 100% .

OR1B1 961 100% .

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OR1C1 949 100% .

OR1D2 943 100% .

OR1D5 943 98% .

OR1E1 949 100% .

OR1E2 976 100% .

OR1F1 943 100% .

OR1G1 946 100% .

OR1I1 1072 99% .

OR1J1 973 100% .

OR1J2 946 100% .

OR1J4 946 100% .

OR1K1 955 100% .

OR1L1 937 100% .

OR1L3 979 100% .

OR1L4 940 100% .

OR1L6 940 100% .

OR1L8 934 100% .

OR1M1 946 100% .

OR1N1 940 100% .

OR1N2 997 100% .

OR1Q1 949 100% .

OR1S1 982 100% .

OR1S2 982 100% .

OR2A1 1874 67% .

OR2A12 937 100% .

OR2A14 937 100% .

OR2A2 961 100% .

OR2A25 937 100% .

OR2A4 937 88% .

OR2A42 1874 67% .

OR2A5 940 100% .

OR2A7 937 98% .

OR2AE1 976 100% .

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OR2AG1 955 100% .

OR2AG2 955 100% .

OR2AK2 1012 100% .

OR2AT4 967 100% .

OR2B11 958 100% .

OR2B2 1078 100% .

OR2B3 946 100% .

OR2B6 946 100% .

OR2C1 943 100% .

OR2C3 967 100% .

OR2D2 931 100% .

OR2D3 997 100% .

OR2F1 958 100% .

OR2F2 958 100% .

OR2G2 958 100% .

OR2G3 934 100% .

OR2G6 955 100% .

OR2H1 955 100% .

OR2H2 943 100% .

OR2J2 943 100% .

OR2J3 940 100% .

OR2K2 955 100% .

OR2L13 943 100% .

OR2L2 943 100% .

OR2L3 943 100% .

OR2L8 943 100% .

OR2M2 1048 100% .

OR2M3 943 100% .

OR2M4 940 100% .

OR2M5 943 100% .

OR2M7 943 100% .

OR2S2 964 100% .

OR2T1 1114 100% .

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OR2T10 943 100% .

OR2T11 955 100% .

OR2T12 967 100% .

OR2T2 979 99% .

OR2T27 958 95% .

OR2T29 934 34% .

OR2T3 961 100% .

OR2T33 967 100% .

OR2T34 961 99% .

OR2T35 976 76% .

OR2T4 1051 100% .

OR2T5 952 41% .

OR2T6 931 100% .

OR2T8 943 96% .

OR2V2 952 100% .

OR2W1 967 100% .

OR2W3 949 100% .

OR2W5 967 100% .

OR2Y1 940 100% .

OR2Z1 949 100% .

OR3A1 952 100% .

OR3A2 970 100% .

OR3A3 970 100% .

OR4A15 1039 100% .

OR4A16 991 100% .

OR4A47 934 100% .

OR4A5 952 100% .

OR4B1 934 100% .

OR4C11 937 81% .

OR4C12 934 100% .

OR4C13 934 100% .

OR4C15 1117 100% .

OR4C16 937 100% .

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OR4C3 994 100% .

OR4C45 927 100% .

OR4C46 934 100% .

OR4C6 934 100% .

OR4D1 937 100% .

OR4D10 940 100% .

OR4D11 940 100% .

OR4D2 928 100% .

OR4D5 961 100% .

OR4D6 949 100% .

OR4D9 949 100% .

OR4E2 946 100% .

OR4F15 943 100% .

OR4F16 2829 0% .

OR4F17 922 100% .

OR4F21 943 82% .

OR4F29 2829 0% .

OR4F3 2829 0% .

OR4F4 922 84% .

OR4F5 922 40% .

OR4F6 943 100% .

OR4K1 940 100% .

OR4K13 919 100% .

OR4K14 937 100% .

OR4K15 1051 100% .

OR4K17 1036 100% .

OR4K2 949 100% .

OR4K5 976 100% .

OR4L1 943 100% .

OR4M1 946 100% .

OR4M2 946 100% .

OR4N2 928 100% .

OR4N4 955 100% .

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OR4N5 931 100% .

OR4P4 943 81% .

OR4Q3 946 100% .

OR4S1 934 100% .

OR4S2 940 81% .

OR4X1 922 100% .

OR4X2 916 100% .

OR51A2 946 86% .

OR51A4 946 100% .

OR51A7 943 100% .

OR51B2 943 100% .

OR51B4 937 100% .

OR51B5 943 100% .

OR51B6 943 100% .

OR51D1 979 100% .

OR51E1 961 100% .

OR51E2 967 100% .

OR51F1 943 100% .

OR51F2 1033 100% .

OR51G1 970 100% .

OR51G2 949 100% .

OR51I1 949 100% .

OR51I2 943 100% .

OR51L1 952 100% .

OR51M1 985 100% .

OR51Q1 958 100% .

OR51S1 976 100% .

OR51T1 1069 100% .

OR51V1 970 100% .

OR52A1 943 100% .

OR52A5 955 100% .

OR52B2 976 100% .

OR52B4 949 100% .

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OR52B6 1012 100% .

OR52D1 961 100% .

OR52E2 982 100% .

OR52E4 943 100% .

OR52E6 946 100% .

OR52E8 958 100% .

OR52H1 967 100% .

OR52I1 979 100% .

OR52I2 1057 100% .

OR52J3 940 100% .

OR52K1 949 100% .

OR52K2 949 100% .

OR52L1 994 100% .

OR52M1 958 100% .

OR52N1 967 99% .

OR52N2 970 100% .

OR52N4 970 100% .

OR52N5 979 94% .

OR52R1 952 100% .

OR52W1 967 100% .

OR56A1 961 100% .

OR56A3 952 100% .

OR56A4 1102 100% .

OR56A5 946 100% .

OR56B1 979 100% .

OR56B4 964 100% .

OR5A1 952 100% .

OR5A2 979 100% .

OR5AC2 934 100% .

OR5AK2 934 100% .

OR5AN1 940 100% .

OR5AP2 955 100% .

OR5AR1 937 100% .

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OR5AS1 979 100% .

OR5AU1 1093 100% .

OR5B12 949 100% .

OR5B17 949 100% .

OR5B2 934 100% .

OR5B21 934 100% .

OR5B3 949 100% .

OR5C1 967 100% .

OR5D13 949 100% .

OR5D14 949 100% .

OR5D16 991 100% .

OR5D18 946 100% .

OR5F1 949 100% .

OR5H1 946 100% .

OR5H14 937 100% .

OR5H15 946 100% .

OR5H2 949 100% .

OR5H6 982 100% .

OR5I1 949 100% .

OR5J2 943 100% .

OR5K1 931 100% .

OR5K2 955 100% .

OR5K3 970 100% .

OR5K4 970 100% .

OR5L1 940 100% .

OR5L2 940 100% .

OR5M1 952 100% .

OR5M10 952 100% .

OR5M11 922 100% .

OR5M3 928 100% .

OR5M8 940 100% .

OR5M9 937 100% .

OR5P2 973 100% .

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OR5P3 940 100% .

OR5R1 979 100% .

OR5T1 985 100% .

OR5T2 1084 100% .

OR5T3 1027 100% .

OR5V1 970 100% .

OR5W2 937 100% .

OR6A2 988 100% .

OR6B1 940 100% .

OR6B2 943 100% .

OR6B3 1000 100% .

OR6C1 943 100% .

OR6C2 943 100% .

OR6C3 940 100% .

OR6C4 934 100% .

OR6C6 949 100% .

OR6C65 943 100% .

OR6C68 958 100% .

OR6C70 943 100% .

OR6C74 943 100% .

OR6C75 943 100% .

OR6C76 943 100% .

OR6F1 931 100% .

OR6K2 979 100% .

OR6K3 952 100% .

OR6K6 1036 100% .

OR6M1 946 100% .

OR6N1 943 100% .

OR6N2 958 100% .

OR6P1 958 100% .

OR6Q1 958 100% .

OR6S1 1000 100% .

OR6T1 976 100% .

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OR6V1 946 100% .

OR6X1 943 100% .

OR6Y1 982 100% .

OR7A10 934 100% .

OR7A17 934 100% .

OR7A5 964 100% .

OR7C1 967 100% .

OR7C2 964 100% .

OR7D2 943 100% .

OR7D4 943 100% .

OR7E24 1024 100% .

OR7G1 940 100% .

OR7G2 1042 100% .

OR7G3 943 100% .

OR8A1 985 100% .

OR8B12 937 100% .

OR8B2 946 100% .

OR8B3 946 100% .

OR8B4 934 100% .

OR8B8 940 100% .

OR8D1 931 100% .

OR8D2 940 100% .

OR8D4 949 100% .

OR8G1 1910 100% .

OR8G2 919 100% .

OR8G5 1045 100% .

OR8H1 940 100% .

OR8H2 943 100% .

OR8H3 943 100% .

OR8I2 937 100% .

OR8J1 955 100% .

OR8J3 952 100% .

OR8K1 964 100% .

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OR8K3 943 100% .

OR8K5 928 100% .

OR8S1 1088 100% .

OR8U1 934 100% .

OR8U8 1925 100% .

OR9A2 937 100% .

OR9A4 949 100% .

OR9G1 922 100% .

OR9G4 988 100% .

OR9G9 922 100% .

OR9I1 949 100% .

OR9K2 1012 100% .

OR9Q1 937 100% .

OR9Q2 949 100% .

ORAI1 920 97% .

ORAI2 773 96% .

ORAI3 896 89% .

ORAOV1 434 98% .

ORC1 2850 100% Meier-Gorlin Syndrome 1

ORC2 1798 100% .

ORC3 2459 100% .


ORC5 1617 100% .


ORM1 630 100% .

ORM2 630 100% .

ORMDL1 474 100% .

ORMDL2 474 100% .

ORMDL3 474 100% .

OS9 2344 98% .

OSBP 2480 90% .

OSBP2 2807 96% .

OSBPL10 2343 90% .

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OSBPL11 2296 100% .

OSBPL1A 3208 100% .

OSBPL2 1644 100% .

OSBPL3 2752 100% .

OSBPL5 2724 82% .

OSBPL6 3019 100% .

OSBPL7 2617 94% .

OSBPL8 2904 100% .

OSBPL9 2466 100% .

OSCAR 1502 34% .

OSCP1 1340 100% .

OSGEP 1052 100% .

OSGEPL1 1273 100% .

OSGIN1 1486 97% .

OSGIN2 1833 97% .

OSM 771 100% .

OSMR 3240 100% .

OSR1 809 99% .

OSR2 1138 100% .

OST4 118 0% .

OSTalpha 1059 96% .

OSTBETA 399 75% .

OSTC 466 100% .

OSTF1 685 100% .

OSTM1 1029 86% OSTM1-Related Autosomal Recessive Osteopetrosis

OSTN 414 100% .

OTC 1105 100% Ornithine Transcarbamylase Deficiency

OTC 1105 100% Choriodal Dystrophy, Central Areolar 2

OTOA 3578 81% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

OTOA 3578 81% DFNB22 Nonsyndromic Hearing Loss and Deafness

OTOF 7140 98% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

OTOF 7140 98% OTOF-Related Deafness

OTOGL 7267 98% .

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OTOL1 1450 100% .

OTOP1 1863 92% .

OTOP2 1713 98% .

OTOP3 1819 94% .

OTOR 403 100% .

OTOS 282 99% .

OTP 990 72% .

OTUB1 844 88% .

OTUB2 729 99% .

OTUD1 1450 42% .

OTUD3 1229 82% .

OTUD4 3375 100% .

OTUD5 2026 72% .

OTUD6A 871 99% .

OTUD6B 1000 100% .

OTUD7A 2825 73% .

OTUD7B 2576 100% .

OTX1 1077 100% .

OTX2 1086 100% Anophthalmia/Microphthalmia

OTX2 1086 100% Syndromic Microphthalmia 5

OTX2 1086 100% OTX2-Related Combined Pituitary Hormone Deficiency

OVCA2 692 82% .

OVCH1 3517 100% .

OVCH2 1755 100% .

OVGP1 2081 100% .

OVOL1 820 95% .

OVOL2 844 71% .

OXA1L 1528 100% .

OXCT1 1631 100% Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency

OXCT1 1631 100% Choriodal Dystrophy, Central Areolar 2

OXCT2 1558 67% .

OXER1 1276 92% .

OXGR1 1018 100% .

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OXNAD1 967 100% .

OXR1 2989 92% .

OXSM 3350 100% .

OXSR1 1656 100% .

OXT 390 77% .

OXTR 1178 92% .

P2RX1 1248 97% .

P2RX2 3719 98% .

P2RX3 1242 93% .

P2RX4 1215 98% .

P2RX5 1464 100% .

P2RX6 1542 98% .

P2RX7 1840 97% .

P2RY1 1126 100% .

P2RY10 1024 100% .

P2RY11 1133 100% .

P2RY12 1033 100% .

P2RY13 1073 100% .

P2RY14 1021 100% .

P2RY2 1138 100% .

P2RY4 1102 99% .

P2RY6 991 100% .

P2RY8 2168 50% .

P4HA1 1844 100% .

P4HA2 1728 100% .

P4HA3 1687 94% .

P4HB 1571 90% .

P4HTM 2196 89% .

PA2G4 1237 100% .

PAAF1 1227 96% .

PABPC1 1967 100% .

PABPC1L 1901 92% .

PABPC1L2A 607 13% .

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PABPC1L2B 607 9% .

PABPC3 1900 100% .

PABPC4 2167 100% .

PABPC4L 1291 33% .

PABPC5 1153 100% .

PABPN1 949 71% Oculopharyngeal Muscular Dystrophy

PABPN1L 865 65% .

PACRG 915 87% .

PACRGL 694 100% .

PACS1 2988 93% .

PACS2 3104 82% .

PACSIN1 1371 91% .

PACSIN2 1501 100% .

PACSIN3 1311 100% .

PADI1 2056 99% .

PADI2 2062 93% .

PADI3 2059 100% .

PADI4 2056 100% .

PADI6 2267 93% .

PAEP 567 67% .

PAF1 1652 97% .

PAFAH1B1 1273 100% LIS1-Associated Lissencephaly/Subcortical Band Heterotopia

PAFAH1B1 1273 100% Choriodal Dystrophy, Central Areolar 2

PAFAH1B2 1130 74% .

PAFAH1B3 716 89% .

PAFAH2 1219 100% .

PAG1 1323 100% .

PAGE1 461 99% .

PAGE2 352 94% .

PAGE2B 352 94% .

PAGE4 325 100% .

PAGE5 506 90% .

PAH 1411 100% Phenylalanine Hydroxylase Deficiency

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PAH 1411 100% Choriodal Dystrophy, Central Areolar 2

PAICS 1339 98% .

PAIP1 1927 72% .

PAIP2 396 100% .

PAIP2B 384 100% .

PAK1 1838 100% .

PAK1IP1 1219 100% .

PAK2 1631 100% .

PAK3 1807 100% X-Linked Mental Retardation 30

PAK4 1808 81% .

PAK6 2078 100% .

PAK7 2192 100% .

PALB2 3613 100% Fanconi Anemia

PALB2 3613 100% PALB2-Related Fanconi Anemia

PALB2 3613 100% PALB2-Related Cancer Susceptibility

PALB2 3613 100% Pancreatic Cancer Susceptibility 3

PALLD 4207 87% Pancreatic Cancer Susceptibility 1

PALM 1200 66% .

PALM2 1324 99% .

PALM2-AKAP2 3357 100% .

PALM3 2046 59% .

PALMD 1688 100% .

PAM 3086 100% .

PAM16 398 91% .

PAMR1 2262 95% .

PAN2 4015 100% .

PAN3 2740 85% .

PANK1 1857 92% .

PANK2 2098 88% Pantothenate Kinase-Associated Neurodegeneration

PANK2 2098 88% Choriodal Dystrophy, Central Areolar 2

PANK3 1141 100% .

PANK4 2398 92% .

PANX1 1301 100% .

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PANX2 2742 78% .

PANX3 1195 100% .

PAOX 1995 91% .

PAPD4 1511 100% .

PAPD5 2341 89% .

PAPD7 2094 100% .

PAPL 1365 100% .

PAPLN 3856 92% .

PAPOLA 2585 100% .

PAPOLB 1918 100% .

PAPOLG 2299 100% .

PAPPA 4972 92% .

PAPPA2 5868 100% .

PAPSS1 1923 100% .

PAPSS2 1912 99% .

PAQR3 960 100% .

PAQR4 834 99% .

PAQR5 1021 100% .

PAQR6 2385 90% .

PAQR7 1045 100% .

PAQR8 1069 100% .

PAQR9 1138 90% .

PARD3 4575 99% .

PARD3B 3710 94% .

PARD6A 1812 100% .

PARD6B 1131 94% .

PARD6G 1143 71% .

PARG 3003 70% .

PARK2 1446 99% Parkinson Disease

PARK2 1446 99% Parkin Type of Juvenile Parkinson Disease

PARK2 1446 99% Choriodal Dystrophy, Central Areolar 2

PARK7 594 100% Parkinson Disease

PARK7 594 100% PARK7-Related Parkinson Disease

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PARL 1180 96% .

PARM1 949 100% .

PARN 2258 97% .

PARP1 3137 100% .

PARP10 3122 95% .

PARP11 1049 98% .

PARP12 2154 86% .

PARP14 5474 100% .

PARP15 2306 92% .

PARP16 996 93% .

PARP2 2015 99% .

PARP3 1856 97% .

PARP4 5307 100% .

PARP6 1981 100% .

PARP8 2669 100% .

PARP9 3033 100% .

PARPBP 1780 91% .

PARS2 1432 100% .

PARVA 1171 100% .

PARVB 1460 92% .

PARVG 1127 91% .

PASD1 2382 100% .

PASK 4457 100% .

PATE1 401 100% .

PATE2 358 100% .

PATE3 309 0% .

PATE4 309 0% .

PATL1 2389 85% .

PATL2 1692 1% .

PATZ1 2932 100% .

PAWR 1047 55% .

PAX1 1625 78% .

PAX2 1594 97% Renal Coloboma Syndrome

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PAX2 1594 97% Anophthalmia/Microphthalmia

PAX2 1594 97% Choriodal Dystrophy, Central Areolar 2

PAX3 2450 99% Waardenburg Syndrome Type I

PAX3 2450 99% Waardenburg Syndrome Type III

PAX3 2450 99% Craniofacial-Deafness-Hand Syndrome


PAX4 1068 98% Maturity-Onset Diabetes of the Young Type 9

PAX5 1216 97% .

PAX6 1355 100% Aniridia

PAX6 1355 100% Peters Anomaly

PAX6 1355 100% Peters Anomaly with Cataract

PAX6 1355 100% Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

PAX6 1355 100% Aniridia-Wilms Tumor Contiguous Gene Deletion Syndrome

PAX6 1355 100% Isolated Aniridia

PAX6 1355 100% PAX6-Related Anophthalmia

PAX6 1355 100% Hereditary Keratitis

PAX6 1355 100% Foveal Hypoplasia and Presenile Cataract Syndrome (280725)

PAX6 1355 100% Aniridia, Cerebellar Ataxia, And Mental Retardation

PAX6 1355 100% Foveal Hypoplasia and Presenile Cataract Syndrome


PAX7 2266 99% .

PAX8 1590 92% Congenital Hypothyroidism, Nongoitrous 2

PAX8 1590 92% Congenital Hypothyroidism

PAX9 1042 95% Tooth Agenesis, Selective, 3

PAXIP1 3294 89% .

PBK 997 100% .

PBLD 1148 100% .

PBOV1 412 100% .

PBRM1 5398 100% .

PBX1 1423 86% .

PBX2 1329 99% .

PBX3 1419 99% .

PBX4 1157 84% .

UCLA Health System




Feb 2013

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PBXIP1 2236 100% .

PC 3617 97% Pyruvate Carboxylase Deficiency

PC 3617 97% Choriodal Dystrophy, Central Areolar 2

PCBD1 331 98% BH4-Deficient Hyperphenylalaninemia D

PCBD1 331 98% Choriodal Dystrophy, Central Areolar 2

PCBD2 409 78% .

PCBP1 1075 100% .

PCBP2 1308 100% .

PCBP3 1255 100% .

PCBP4 1260 94% .

PCCA 2283 93% Propionic Acidemia

PCCA 2283 93% PCCA-Related Propionic Acidemia

PCCA 2283 93% Choriodal Dystrophy, Central Areolar 2

PCCB 1744 89% Propionic Acidemia

PCCB 1744 89% PCCB-Related Propionic Acidemia

PCCB 1744 89% Choriodal Dystrophy, Central Areolar 2

PCDH1 6102 99% .

PCDH10 5898 100% .

PCDH11X 6752 99% .

PCDH11Y 4741 100% .

PCDH12 3571 100% .

PCDH15 8962 100% Usher Syndrome Type 1

PCDH15 8962 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

PCDH15 8962 100% Usher Syndrome Type 1F

PCDH15 8962 100% DFNB23 Nonsyndromic Hearing Loss and Deafness

PCDH17 3496 100% .

PCDH18 3424 100% .

PCDH19 3648 99% Epileptic Encephalopathy, Early Infantile, 9

PCDH20 2864 98% .

PCDH7 7309 93% .

PCDH8 5860 79% .

PCDH9 3730 100% .

PCDHA1 7755 100% .

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Feb 2013

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PCDHA10 8088 96% .

PCDHA11 5345 100% .

PCDHA12 5237 100% .

PCDHA13 5327 100% .

PCDHA2 5429 100% .

PCDHA3 5429 100% .

PCDHA4 5273 100% .

PCDHA5 5381 100% .

PCDHA6 7719 100% .

PCDHA7 5219 98% .

PCDHA8 5369 100% .

PCDHA9 5537 98% .

PCDHAC1 5393 100% .

PCDHAC2 5789 100% .

PCDHB1 2461 100% .

PCDHB10 2407 100% .

PCDHB11 2398 100% .

PCDHB12 2392 100% .

PCDHB13 2401 100% .

PCDHB14 2401 100% .

PCDHB15 2368 100% .

PCDHB16 2335 100% .

PCDHB2 2401 100% .

PCDHB3 2395 100% .

PCDHB4 2392 100% .

PCDHB5 2392 100% .

PCDHB6 2389 100% .

PCDHB7 2386 100% .

PCDHB8 2410 100% .

PCDHB9 2397 100% .

PCDHGA1 5339 100% .

PCDHGA10 5501 100% .

PCDHGA11 7941 100% .

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Feb 2013

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PCDHGA12 5321 100% .

PCDHGA2 5339 100% .

PCDHGA3 5375 100% .

PCDHGA4 5321 100% .

PCDHGA5 5279 100% .

PCDHGA6 5309 100% .

PCDHGA7 5303 100% .

PCDHGA8 5321 100% .

PCDHGA9 5369 100% .

PCDHGB1 5261 100% .

PCDHGB2 5267 100% .

PCDHGB3 5285 100% .

PCDHGB4 5219 97% .

PCDHGB5 5309 99% .

PCDHGB6 5321 100% .

PCDHGB7 5249 100% .

PCDHGC3 8175 97% .

PCDHGC4 5627 99% .

PCDHGC5 5669 98% .

PCDP1 1729 100% .

PCF11 4732 100% .

PCGF1 816 94% .

PCGF2 1071 68% .

PCGF3 761 89% .

PCGF5 807 100% .

PCGF6 1093 87% .

PCID2 1256 99% .

PCIF1 2175 97% .

PCK1 1905 100% Phosphoenolpyruvate Carboxykinase Deficiency

PCK2 2370 99% Phosphoenolpyruvate Carboxykinase Deficiency

PCLO 15762 100% .

PCM1 6223 100% .

PCMT1 1070 91% .

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Feb 2013

Page 417


PCMTD1 1094 100% .

PCMTD2 1234 100% .

PCNA 810 97% .

PCNP 557 88% .

PCNT 10199 96% Microcephalic Osteodysplastic Primordial Dwarfism, Type II

PCNT 10199 96% Seckel Syndrome

PCNX 7170 100% .

PCNXL2 6550 99% .

PCNXL3 6245 90% .

PCOLCE 1386 91% .

PCOLCE2 1284 96% .

PCP2 427 85% .

PCP4 201 100% .

PCP4L1 219 94% .

PCSK1 2538 98% Proprotein Convertase-1 Deficiency

PCSK1 2538 98% Monogenic Non-Syndromic Obesity, Autosomal Recessive

PCSK1N 795 6% .

PCSK2 2146 100% .

PCSK4 2328 68% .

PCSK5 5851 100% .

PCSK6 4196 87% .

PCSK7 2418 98% .

PCSK9 2127 79% Familial Hypercholesterolemia, Autosomal Dominant, 3

PCTP 791 82% .

PCYOX1 1542 99% .

PCYOX1L 1509 94% .

PCYT1A 1136 100% .

PCYT1B 1463 94% .

PCYT2 1705 89% .

PDAP1 570 97% .

PDC 909 100% .

PDCD1 887 91% .

PDCD10 667 100% Familial Cerebral Cavernous Malformation

UCLA Health System




Feb 2013

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PDCD10 667 100% Familial Cerebral Cavernous Malformation 3

PDCD11 5756 99% .

PDCD1LG2 846 100% .

PDCD2 1839 81% .

PDCD2L 1105 90% .

PDCD4 1775 100% .

PDCD5 402 85% .

PDCD6 600 98% .

PDCD6IP 2935 95% .

PDCD7 1478 68% .

PDCL 918 100% .

PDCL2 750 100% .

PDCL3 744 99% .

PDDC1 695 81% .

PDE10A 2458 99% .

PDE11A 3211 100% .

PDE12 1842 100% .

PDE1A 1742 100% .

PDE1B 1724 97% .

PDE1C 2540 100% .

PDE2A 3302 80% .

PDE3A 3490 91% .

PDE3B 3403 97% .

PDE4A 3178 89% .

PDE4B 2868 100% .

PDE4C 2545 83% .

PDE4D 3944 87% .

PDE4DIP 9888 99% .

PDE5A 3335 100% .

PDE6A 2671 100% Retinitis Pigmentosa, Autosomal Recessive

PDE6A 2671 100% Retinitis Pigmentosa

PDE6A 2671 100% PDE6A-Related Retinitis Pigmentosa

PDE6B 2864 98% Retinitis Pigmentosa, Autosomal Recessive

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Feb 2013

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PDE6B 2864 98% Retinitis Pigmentosa

PDE6B 2864 98% PDE6B-Related Retinitis Pigmentosa

PDE6B 2864 98% Congenital Stationary Night Blindness, Autosomal Dominant 2

PDE6B 2864 98% Choriodal Dystrophy, Central Areolar 2

PDE6C 2665 100% Achromatopsia

PDE6C 2665 100% Cone-Rod Dystrophy 4

PDE6C 2665 100% Achromatopsia 5

PDE6D 473 100% .

PDE6G 276 100% Retinitis Pigmentosa, Autosomal Recessive

PDE6G 276 100% Retinitis Pigmentosa

PDE6G 276 100% PDE6G-Related Retinitis Pigmentosa

PDE6H 264 100% .

PDE7A 1597 100% .

PDE7B 1405 98% .

PDE8A 2639 96% .

PDE8B 2746 98% .

PDE9A 2179 94% .

PDF 740 29% .

PDGFA 675 75% .

PDGFB 772 94% .

PDGFC 1062 100% .

PDGFD 1350 100% .

PDGFRA 3358 100% Gastrointestinal Stromal Tumor

PDGFRA 3358 100% Hypereosinophilic Syndrome

PDGFRB 3409 99% .

PDGFRL 1152 100% .

PDHA1 1508 97% Pyruvate Dehydrogenase E1-Alpha Deficiency

PDHA1 1508 97% X-Linked Leigh Syndrome

PDHA1 1508 97% Pyruvate Dehydrogenase Complex Deficiency

PDHA1 1508 97% Choriodal Dystrophy, Central Areolar 2

PDHA2 1171 100% .

PDHB 1700 99% Pyruvate Dehydrogenase E1-Beta Deficiency

PDHB 1700 99% Pyruvate Dehydrogenase Complex Deficiency

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PDHX 1669 91% E3-Binding Protein (Component X) Deficiency

PDHX 1669 91% Pyruvate Dehydrogenase Complex Deficiency

PDIA2 1622 92% .

PDIA3 1570 100% .

PDIA4 1978 95% .

PDIA5 1628 97% .

PDIA6 1375 97% .

PDIK1L 1034 100% .

PDILT 1799 100% .

PDK1 1355 91% .

PDK2 1603 98% .

PDK3 1448 96% .

PDK4 1280 100% .

PDLIM1 1018 98% .

PDLIM2 2436 61% .

PDLIM3 1319 99% .

PDLIM4 1230 92% .

PDLIM5 3131 100% .

PDLIM7 1544 76% .

PDP1 3598 100% Pyruvate Dehydrogenase Phosphatase Deficiency

PDP2 1594 100% .

PDPK1 1727 54% .

PDPN 995 100% .

PDPR 2708 100% .

PDRG1 422 94% .

PDS5A 4352 99% .

PDS5B 4480 100% .

PDSS1 1296 87% Coenzyme Q10 Deficiency

PDSS1 1296 87% PDSS1-Related Coenzyme Q10 Deficiency

PDSS2 1232 100% Coenzyme Q10 Deficiency

PDSS2 1232 100% PDSS2-Related Coenzyme Q10 Deficiency

PDX1 860 67% Maturity-Onset Diabetes of the Young Type 4

PDX1 860 67% Permanent Neonatal Diabetes Mellitus

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PDX1 860 67% PDX1-Related Permanent Neonatal Diabetes Mellitus

PDX1 860 67% Choriodal Dystrophy, Central Areolar 2

PDXDC1 2459 99% .

PDXK 983 91% .

PDXP 899 53% .

PDYN 773 100% Spinocerebellar Ataxia Type23

PDZD11 447 98% .

PDZD2 8616 100% .

PDZD3 1703 77% .

PDZD4 2342 89% .

PDZD7 3202 63% .

PDZD8 3485 99% .

PDZD9 627 94% .

PDZK1 1592 96% .

PDZK1IP1 361 94% .

PDZRN3 3241 86% .

PDZRN4 3224 95% .

PEA15 405 100% .

PEAK1 5257 100% .

PEAR1 3202 94% .

PEBP1 580 76% .

PEBP4 708 100% .

PECAM1 62 100% .

PECR 944 100% .

PEF1 875 100% .

PEG10 14127 94% .

PEG3 5390 100% .

PELI1 1281 100% .

PELI2 1287 95% .

PELI3 1862 100% .

PELO 1166 100% .

PELP1 3461 99% .

PEMT 851 93% .

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PENK 812 100% .

PEPD 1542 80% Prolidase Deficiency

PER1 3961 96% .

PER2 3856 98% .

PER3 3690 100% .

PERP 594 100% .

PES1 1962 99% .

PET112 1726 100% .

PET117 254 0% .

PEX1 3948 97% Zellweger Syndrome Spectrum

PEX1 3948 97% Peroxisome Biogenesis Disorders (PBD)

PEX1 3948 97% Choriodal Dystrophy, Central Areolar 2



PEX11A 756 92% .

PEX11B 814 91% .

PEX11G 746 53% .

















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PEX5L 1941 100% .




PEX7 1012 87% Refsum Disease

PEX7 1012 87% Rhizomelic Chondrodysplasia Punctata Type 1

PEX7 1012 87% PEX7-Related Refsum Disease


PF4 318 70% .

PF4V1 327 100% .

PFAS 4125 100% .

PFDN1 385 82% .

PFDN2 481 100% .

PFDN4 421 92% .

PFDN5 489 100% .

PFDN6 406 100% .

PFKFB1 1472 96% .

PFKFB2 1644 100% .

PFKFB3 1643 97% .

PFKFB4 1466 100% .

PFKL 2431 91% .

PFKM 2749 100% Glycogen Storage Disease Type VII

PFKM 2749 100% Choriodal Dystrophy, Central Areolar 2

PFKP 2443 91% .

PFN1 435 100% .

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PFN2 537 75% .

PFN3 418 89% .

PFN4 406 100% .

PGA3 1203 37% .

PGA4 1203 1% .

PGA5 1203 46% .

PGAM1 781 100% .

PGAM2 774 100% Glycogen Storage Disease Type X

PGAM2 774 100% Choriodal Dystrophy, Central Areolar 2

PGAM4 769 100% .

PGAM5 1085 67% .

PGAP1 2877 100% .

PGAP2 1955 96% .

PGAP3 995 77% .

PGBD1 2454 100% .

PGBD2 3553 100% .

PGBD3 1786 100% .

PGBD4 1762 100% .

PGBD5 1396 100% .

PGC 1512 80% .

PGCP 1447 100% .

PGD 1504 100% .

PGF 541 85% .

PGGT1B 1170 100% .

PGK1 1298 100% Phosphoglycerate Kinase 1 Deficiency

PGK1 1298 100% Choriodal Dystrophy, Central Areolar 2

PGK2 1258 100% .

PGLS 797 59% .

PGLYRP1 603 97% .

PGLYRP2 1751 94% .

PGLYRP3 1054 100% .

PGLYRP4 1154 100% .

PGM1 2167 100% Congenital Disorders of Glycosylation

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PGM1 2167 100% Glycogen Storage Disease Type XIV

PGM1 2167 100% PGM1-CDG

PGM2 1895 96% .

PGM2L1 1925 100% .

PGM3 2440 100% .

PGM5 1748 97% .

PGP 974 45% .

PGPEP1 650 96% .

PGPEP1L 838 97% .

PGR 4475 83% .

PGRMC1 600 97% .

PGRMC2 756 61% .

PGS1 1707 91% .

PHACTR1 1795 100% .

PHACTR2 2007 98% .

PHACTR3 2011 88% .

PHACTR4 2211 100% .

PHAX 1205 100% .

PHB 843 98% .

PHB2 936 100% .

PHC1 3071 92% .

PHC2 2840 96% .

PHC3 3048 100% .

PHEX 2338 100% X-Linked Hypophosphatemia

PHEX 2338 100% Choriodal Dystrophy, Central Areolar 2

PHF1 2247 100% .

PHF10 1633 94% .

PHF11 1162 92% .

PHF12 3927 100% .

PHF13 919 100% .

PHF14 2735 100% .

PHF15 2413 97% .

PHF16 2512 99% .

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PHF17 3149 100% .

PHF19 2222 87% .

PHF2 3379 89% .

PHF20 3107 100% .

PHF20L1 3323 100% .

PHF21A 2231 100% .

PHF21B 1919 85% .

PHF23 1232 98% .

PHF3 6180 100% .

PHF5A 349 100% .

PHF6 1624 100% Borjeson-Forssman-Lehmann Syndrome

PHF6 1624 100% Choriodal Dystrophy, Central Areolar 2

PHF7 1186 100% .

PHF8 3866 94% Siderius X-Linked Mental Retardation Syndrome

PHGDH 1650 100% Phosphoglycerate Dehydrogenase Deficiency

PHGR1 257 0% .

PHIP 5626 99% .

PHKA1 3800 100% Phosphorylase Kinase Deficiency

PHKA1 3800 100% Muscle Glycogenosis, X-Linked

PHKA1 3800 100% PHKA1-Related Phosphorylase Kinase Deficiency

PHKA2 3840 97% PHKA2-Related Phosphorylase Kinase Deficiency

PHKA2 3840 97% Phosphorylase Kinase Deficiency

PHKA2 3840 97% Choriodal Dystrophy, Central Areolar 2

PHKB 3560 100% PHKB-Related Phosphorylase Kinase Deficiency

PHKB 3560 100% Phosphorylase Kinase Deficiency

PHKB 3560 100% Choriodal Dystrophy, Central Areolar 2

PHKG1 1200 99% .

PHKG2 1601 94% PHKG2-Related Phosphorylase Kinase Deficiency

PHKG2 1601 94% Phosphorylase Kinase Deficiency

PHLDA1 1210 85% .

PHLDA2 463 84% .

PHLDA3 388 99% .

PHLDB1 4222 100% .

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PHLDB2 5316 100% .

PHLDB3 1983 93% .

PHLPP1 5222 79% .

PHLPP2 4044 100% .

PHOSPHO1 1815 57% .

PHOSPHO2 730 100% .

PHOSPHO2-KLHL23 1689 100% .

PHOX2A 867 33% Congenital Fibrosis of the Extraocular Muscles

PHOX2A 867 33% PHOX2A-Related Congenital Fibrosis of the Extraocular Muscles

PHOX2B 957 98% Congenital Central Hypoventilation Syndrome

PHOX2B 957 98% Neuroblastoma, Susceptibility

PHOX2B 957 98% PHOX2B-Related Neuroblastoma, Susceptibility

PHPT1 546 100% .

PHRF1 5015 99% .

PHTF1 2361 100% .

PHTF2 2596 100% .

PHYH 1226 94% Refsum Disease

PHYH 1226 94% PHYH-Related Refsum Disease

PHYH 1226 94% Choriodal Dystrophy, Central Areolar 2

PHYHD1 1050 92% .

PHYHIP 1009 90% .

PHYHIPL 1183 100% .

PI15 797 100% .

PI16 1416 92% .

PI3 362 100% .

PI4K2A 1476 92% .

PI4K2B 1486 82% .

PI4KA 6514 98% .

PI4KB 3708 100% .

PIAS1 2012 100% .

PIAS2 1997 99% .

PIAS3 1943 99% .

PIAS4 1577 95% .

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PIBF1 2342 100% .

PICALM 2368 100% .

PICK1 1296 98% .

PID1 793 80% .

PIDD 2916 88% .

PIEZO1 7770 54% .

PIEZO2 8467 58% .

PIF1 1974 83% .

PIGA 1492 99% .

PIGB 1713 100% .

PIGC 898 100% .

PIGF 759 100% .

PIGG 3226 100% .

PIGH 583 62% .

PIGK 1232 100% .

PIGL 787 100% .

PIGM 1276 100% .

PIGN 2908 100% .

PIGO 6374 100% .

PIGP 651 100% .

PIGQ 3141 93% .

PIGR 2335 98% .

PIGS 1716 100% .

PIGT 1967 95% .

PIGU 1356 92% .

PIGV 1494 100% Hyperphosphatasia with Mental Retardation Syndrome 1

PIGW 1519 100% .

PIGX 859 86% .

PIGY 573 67% .

PIGZ 1748 96% .

PIH1D1 909 100% .

PIH1D2 1026 100% .

PIK3AP1 2486 99% .

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PIK3C2A 5189 100% .

PIK3C2B 5033 97% .

PIK3C2G 4462 100% .

PIK3C3 2764 100% .

PIK3CA 3287 100% PI3K/AKT Pathway Megalencephaly Syndromes

PIK3CA 3287 100% Megalencephaly-Capillary Malformation (MCAP) Syndrome

PIK3CB 3436 100% .

PIK3CD 3223 97% .

PIK3CG 3349 100% .

PIK3IP1 1025 86% .

PIK3R1 2468 100% .

PIK3R2 2247 80% PI3K/AKT Pathway Megalencephaly Syndromes

PIK3R2 2247 80% Megalencephaly-Polymicrogyria- Polydactyly- Hydrocephalus (MPPH) Syndrome

PIK3R3 1426 100% .

PIK3R4 4153 100% .

PIK3R5 3440 97% .

PIK3R6 2340 98% .

PIKFYVE 6655 100% Corneal Fleck Dystrophy

PILRA 976 100% .

PILRB 700 100% .

PIM1 1052 100% .

PIM2 960 86% .

PIM3 1005 61% .

PIN1 508 65% .

PIN4 581 80% .

PINK1 1778 79% Parkinson Disease

PINK1 1778 79% PINK1 Type of Young-Onset Parkinson Disease

PINX1 1015 100% .

PION 2689 96% .

PIP 457 100% .

PIP4K2A 1261 100% .

PIP4K2B 1291 100% .

PIP4K2C 1509 100% .

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PIP5K1A 1792 100% .

PIP5K1B 1675 100% .

PIP5K1C 2079 92% .

PIP5KL1 1285 59% .

PIPOX 1205 100% .

PIR 909 100% .

PIRT 418 95% .

PISD 1156 95% .

PITHD1 660 69% .

PITPNA 857 99% .

PITPNB 860 79% .

PITPNC1 1479 100% .

PITPNM1 4002 92% .

PITPNM2 4146 88% .

PITPNM3 3005 97% Cone-Rod Dystrophy 5

PITRM1 3407 97% .

PITX1 957 91% PITX1-Related Congenital Clubfoot

PITX2 1179 87% Axenfeld-Rieger Syndrome

PITX2 1179 87% Cataracts, Autosomal Dominant

PITX2 1179 87% Anophthalmia/Microphthalmia

PITX2 1179 87% Peters Anomaly

PITX2 1179 87% Peters Anomaly with Cataract

PITX2 1179 87% Iris Hypoplasia

PITX2 1179 87% Anterior Segment Mesenchymal Dysgenesis

PITX2 1179 87% Ring Dermoid of Cornea

PITX2 1179 87% Choriodal Dystrophy, Central Areolar 2

PITX3 921 72% Cataracts, Autosomal Dominant

PITX3 921 72% Anophthalmia/Microphthalmia

PITX3 921 72% Peters Anomaly with Cataract

PITX3 921 72% Anterior Segment Mesenchymal Dysgenesis

PITX3 921 72% Choriodal Dystrophy, Central Areolar 2

PIWIL1 2860 100% .

PIWIL2 3010 100% .

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PIWIL3 2958 100% .

PIWIL4 2639 99% .

PJA1 7744 100% .

PJA2 2163 100% .

PKD1 13153 84% Polycystic Kidney Disease, Autosomal Dominant

PKD1 13153 84% Polycystic Kidney Disease 1, Autosomal Dominant

PKD1 13153 84% Choriodal Dystrophy, Central Areolar 2

PKD1L1 8778 99% .

PKD1L2 7621 100% .

PKD1L3 5315 100% .

PKD2 2967 80% Polycystic Kidney Disease, Autosomal Dominant

PKD2 2967 80% Polycystic Kidney Disease 2, Autosomal Dominant

PKD2 2967 80% Choriodal Dystrophy, Central Areolar 2

PKD2L1 2839 100% .

PKD2L2 1898 100% .

PKDCC 1510 66% .

PKDREJ 6766 93% .

PKHD1 12528 100% Polycystic Kidney Disease, Autosomal Recessive

PKHD1L1 13044 100% .

PKIA 239 100% .

PKIB 245 100% .

PKIG 239 100% .

PKLR 1780 100% Pyruvate Kinase Deficiency

PKLR 1780 100% Choriodal Dystrophy, Central Areolar 2

PKM2 2252 100% .

PKMYT1 1806 81% .

PKN1 2960 83% .

PKN2 3043 99% .

PKN3 2758 92% .

PKNOX1 1351 100% .

PKNOX2 1459 100% .

PKP1 2300 99% Ectodermal Dysplasia/Skin Fragility Syndrome

PKP1 2300 99% PKP1-Related Ectodermal Dysplasia/Skin Fragility Syndrome

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PKP2 2702 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

PKP2 2702 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9

PKP3 2446 74% .

PKP4 3663 100% .

PLA1A 1710 100% .

PLA2G10 514 29% .

PLA2G12A 586 95% .

PLA2G12B 604 99% .

PLA2G15 1263 99% .

PLA2G16 505 100% .

PLA2G1B 463 100% .

PLA2G2A 451 100% .

PLA2G2C 465 100% .

PLA2G2D 454 100% .

PLA2G2E 445 90% .

PLA2G2F 656 99% .

PLA2G3 1558 97% .

PLA2G4A 2318 100% .

PLA2G4B 2426 100% .

PLA2G4C 2078 98% .

PLA2G4D 2537 88% .

PLA2G4E 2423 100% .

PLA2G4F 2630 97% .

PLA2G5 433 100% .

PLA2G6 2485 82% PLA2G6-Associated Neurodegeneration

PLA2G7 1370 100% .

PLA2R1 4778 98% .

PLAA 2444 98% .

PLAC1 643 100% .

PLAC1L 493 100% .

PLAC4 457 45% .

PLAC8 360 100% .

PLAC8L1 550 100% .

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PLAC9 310 78% .

PLAG1 2776 100% .

PLAGL1 2644 100% Diabetes Mellitus, 6q24-Related Transient Neonatal

PLAGL2 1499 100% .

PLAT 1741 100% .

PLAU 2149 100% Quebec Platelet Disorder

PLAUR 1132 92% .

PLB1 4742 98% .

PLBD1 1706 93% .

PLBD2 1818 77% .

PLCB1 3882 100% Epileptic Encephalopathy, Early Infantile, 12

PLCB2 3686 95% .

PLCB3 3974 89% .

PLCB4 3862 100% .

PLCD1 2432 96% .

PLCD3 2429 82% .

PLCD4 2349 100% .

PLCE1 7319 100% Nephrotic Syndrome Type 3

PLCG1 4196 97% .

PLCG2 3926 100% .

PLCH1 5340 100% .

PLCH2 4339 88% .

PLCL1 3312 93% .

PLCL2 5893 94% .

PLCXD1 1992 50% .

PLCXD2 1053 100% .

PLCXD3 978 100% .

PLCZ1 1883 100% .

PLD1 3329 100% .

PLD2 3056 100% .

PLD3 1517 94% .

PLD4 1561 72% .

PLD5 1790 89% .

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PLD6 767 53% .

PLDN 539 84% .

PLEC 14884 87% Epidermolysis Bullosa with Pyloric Atresia

PLEC 14884 87% PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia

PLEC 14884 87% Epidermolysis Bullosa Simplex with Muscular Dystrophy

PLEC 14884 87% Epidermolysis Bullosa Simplex, Ogna Type

PLEC 14884 87% Limb-Girdle Muscular Dystrophy Type 2Q

PLEC 14884 87% Choriodal Dystrophy, Central Areolar 2

PLEK 1089 100% .

PLEK2 1098 98% .

PLEKHA1 1368 100% .

PLEKHA2 1691 99% .

PLEKHA3 935 100% .

PLEKHA4 2533 93% .

PLEKHA5 3641 99% .

PLEKHA6 3227 89% .

PLEKHA7 3458 96% .

PLEKHA8 1665 96% .

PLEKHB1 844 93% .

PLEKHB2 810 100% .

PLEKHD1 1573 55% .

PLEKHF1 844 86% .

PLEKHF2 754 100% .

PLEKHG1 4218 100% .

PLEKHG2 4233 95% .

PLEKHG3 3548 98% .

PLEKHG4 4163 100% .

PLEKHG4B 3888 91% .

PLEKHG5 3482 88% Distal Spinal Muscular Atrophy 4

PLEKHG6 2479 87% .

PLEKHG7 1184 100% .

PLEKHH1 4207 100% .

PLEKHH2 4598 100% .

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PLEKHH3 2434 74% .

PLEKHJ1 474 70% .

PLEKHM1 3215 100% PLEKHM1-Related Autosomal Recessive Osteopetrosis

PLEKHM2 3140 98% .

PLEKHM3 2314 100% .

PLEKHN1 2072 82% .

PLEKHO1 1254 100% .

PLEKHO2 1497 96% .

PLG 2636 100% .

PLGLB1 606 52% .

PLGLB2 606 52% .

PLIN1 1601 68% .

PLIN2 1342 100% .

PLIN3 1972 100% .

PLIN4 4098 98% .

PLIN5 1420 73% .

PLK1 1852 97% .

PLK1S1 2140 96% .

PLK2 2662 100% .

PLK3 2001 86% .

PLK4 3077 100% .

PLLP 565 87% .

PLN 163 100% Familial Hypertrophic Cardiomyopathy

PLN 163 100% Dilated Cardiomyopathy

PLN 163 100% PLN-Related Dilated Cardiomyopathy

PLN 163 100% PLN-Related Familial Hypertrophic Cardiomyopathy

PLN 163 100% Choriodal Dystrophy, Central Areolar 2

PLOD1 2260 95% Ehlers-Danlos Syndrome, Kyphoscoliotic Form

PLOD1 2260 95% Choriodal Dystrophy, Central Areolar 2

PLOD2 2357 97% Bruck Syndrome 2

PLOD3 2293 87% .

PLP1 1128 100% PLP1-Related Disorders

PLP1 1128 100% Choriodal Dystrophy, Central Areolar 2

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PLP2 479 98% .

PLRG1 1663 100% .

PLS1 1950 100% .

PLS3 2121 100% .

PLSCR1 989 100% .

PLSCR2 699 100% .

PLSCR3 916 85% .

PLSCR4 1137 100% .

PLSCR5 844 90% .

PLTP 1675 96% .

PLVAP 1353 100% .

PLXDC1 1559 92% .

PLXDC2 1646 97% .

PLXNA1 5815 98% .

PLXNA2 5809 100% .

PLXNA3 5744 91% .

PLXNA4 6123 100% .

PLXNB1 6552 91% .

PLXNB2 5657 92% .

PLXNB3 5988 78% .

PLXNC1 4831 92% .

PLXND1 5922 81% .

PM20D1 1561 98% .

PM20D2 1339 77% .

PMAIP1 173 64% .

PMCH 510 100% .

PMEL 2122 100% .

PMEPA1 1047 74% .

PMF1 1012 100% .

PMF1-BGLAP 1105 97% .

PMFBP1 3693 100% .

PML 4535 97% .

PMM1 821 98% .

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PMM2 773 96% Congenital Disorders of Glycosylation

PMM2 773 96% PMM2-CDG (CDG-Ia)

PMM2 773 96% Choriodal Dystrophy, Central Areolar 2

PMP2 415 100% .

PMP22 499 84% Charcot-Marie-Tooth Neuropathy Type 1

PMP22 499 84% Hereditary Neuropathy with Liability to Pressure Palsies

PMP22 499 84% Charcot-Marie-Tooth Neuropathy Type 1A

PMP22 499 84% Charcot-Marie-Tooth Neuropathy Type 1E

PMP22 499 84% Choriodal Dystrophy, Central Areolar 2

PMPCA 1630 96% .

PMPCB 1522 100% .

PMS1 2847 100% Lynch Syndrome

PMS1 2847 100% PMS1-Related Lynch Syndrome

PMS1 2847 100% Choriodal Dystrophy, Central Areolar 2

PMS2 2649 100% Lynch Syndrome

PMS2 2649 100% Turcot Syndrome

PMS2 2649 100% PMS2-Related Lynch Syndrome

PMS2 2649 100% PMS2-Related Turcot Syndrome

PMS2 2649 100% Choriodal Dystrophy, Central Areolar 2

PMVK 599 100% .

PNCK 1378 88% .

PNISR 2458 100% .

PNKD 1563 83% Familial Paroxysmal Nonkinesigenic Dyskinesia

PNKP 1630 85% Epileptic Encephalopathy, Early Infantile, 10

PNLDC1 1635 100% .

PNLIP 1446 100% .

PNLIPRP1 1452 100% .

PNLIPRP2 1464 94% .

PNLIPRP3 1452 100% .

PNMA1 1066 100% .

PNMA2 1099 100% .

PNMA3 1396 100% .

PNMA5 1351 100% .

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PNMA6A 2408 0% .

PNMA6C 1204 0% .

PNMA6D 2408 0% .

PNMAL1 2700 100% .

PNMAL2 1912 94% .

PNMT 861 92% .

PNN 2190 100% .

PNO1 787 100% .

PNOC 539 100% .

PNP 894 99% Purine Nucleoside Phosphorylase Deficiency

PNP 894 99% Choriodal Dystrophy, Central Areolar 2

PNPLA1 2136 95% Autosomal Recessive Congenital Ichthyosis

PNPLA1 2136 95% PNPLA1-Related Autosomal Recessive Congenital Ichthyosis

PNPLA2 1551 64% Neutral Lipid Storage Disease with Myopathy

PNPLA3 1482 99% PNPLA3-Related Susceptibility to Nonalchoholic Fatty Liver Disease

PNPLA4 885 100% .

PNPLA5 1544 85% .

PNPLA6 4644 82% Spastic Paraplegia 39

PNPLA7 4169 87% .

PNPLA8 3507 100% .

PNPO 814 83% Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

PNPT1 2464 100% .

PNRC1 992 85% .

PNRC2 424 50% .

POC1A 1444 98% .

POC1B 1661 99% .

POC1B-GALNT4 3609 99% .

POC5 1785 100% .

PODN 2062 93% .

PODNL1 1593 57% .

PODXL 1713 87% .

PODXL2 1850 79% .

POF1B 1834 100% .

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POFUT1 1242 96% .

POFUT2 1732 98% .

POGK 1846 100% .

POGLUT1 1223 96% .

POGZ 4528 100% .

POLA1 4537 99% .

POLA2 1869 100% .

POLB 1064 100% .

POLD1 3428 81% .

POLD2 1450 99% .

POLD3 1449 100% .

POLD4 340 81% .

POLDIP2 1150 93% .

POLDIP3 1302 100% .

POLE 7057 99% .

POLE2 1865 96% .

POLE3 460 95% .

POLE4 370 43% .

POLG 3808 99% Alpers-Huttenlocher Syndrome

POLG 3808 99% POLG-Related Ataxia Neuropathy Spectrum Disorders

POLG 3808 99% Autosomal Recessive Progressive External Ophthalmoplegia

POLG 3808 99% Autosomal Dominant Progressive External Ophthalmoplegia

POLG 3808 99% POLG-Related Disorders

POLG 3808 99% Childhood Myocerebrohepatopathy Spectrum Disorders

POLG 3808 99% Myoclonic Epilepsy Myopathy Sensory Ataxia

POLG 3808 99% Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related

POLG2 1490 100% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 4

POLH 2182 100% Xeroderma Pigmentosum

POLH 2182 100% POLH-Related Xeroderma Pigmentosum

POLI 2263 95% .

POLK 2669 100% .

POLL 2082 100% .

POLM 1529 84% .

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POLN 2799 100% .

POLQ 7893 100% .

POLR1A 5299 100% .

POLR1B 3468 100% .

POLR1C 1077 100% POLR1C-Related Treacher Collins Syndrome

POLR1C 1077 100% Treacher Collins Syndrome

POLR1D 840 99% POLR1D-Related Treacher Collins Syndrome

POLR1D 840 99% Treacher Collins Syndrome

POLR1E 1308 95% .

POLR2A 6029 99% .

POLR2B 3625 100% .

POLR2C 864 99% .

POLR2D 445 100% .

POLR2E 661 100% .

POLR2F 404 95% .

POLR2G 551 100% .

POLR2H 473 100% .

POLR2I 402 100% .

POLR2J 370 100% .

POLR2J2 364 24% .

POLR2J3 364 41% .

POLR2K 189 100% .

POLR2L 212 100% .

POLR2M 1772 97% .

POLR3A 4297 99% Pol III-Related Leukodystrophies

POLR3B 3583 100% Pol III-Related Leukodystrophies

POLR3C 1661 100% .

POLR3D 1229 98% .

POLR3E 2207 99% .

POLR3F 987 100% .

POLR3G 700 100% .

POLR3GL 685 99% .

POLR3H 639 100% .

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POLR3K 339 100% .

POLRMT 3777 83% .

POM121 3003 98% .

POM121C 3012 82% .

POM121L12 895 100% .

POM121L2 3112 100% .

POMC 812 88% Proopiomelanocortin Deficiency

POMC 812 88% Monogenic Non-Syndromic Obesity, Autosomal Recessive

POMGNT1 2273 100% POMGNT1-Related Muscle Diseases

POMGNT1 2273 100% Congenital Muscular Dystrophy

POMGNT1 2273 100% Limb-Girdle Muscular Dystrophy, Type 3C

POMGNT1 2273 100% Choriodal Dystrophy, Central Areolar 2

POMP 450 98% .

POMT1 2746 96% Congenital Muscular Dystrophy

POMT1 2746 96% POMT1-Related Muscle Diseases

POMT2 2337 89% Congenital Muscular Dystrophy

POMT2 2337 89% POMT2-Related Muscle Diseases

POMZP3 591 97% .

PON1 1104 100% .

PON2 1232 94% .

PON3 1101 100% .

POP1 3135 100% .

POP4 691 100% .

POP5 512 100% .

POP7 427 100% .

POPDC2 1111 100% .

POPDC3 888 100% .

POR 2103 95% Cytochrome P450 Oxidoreductase Deficiency

PORCN 1442 91% Focal Dermal Hypoplasia

POSTN 2603 100% .

POT1 2260 100% .

POTEA 1545 100% .

POTEB 3358 22% .

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POTEC 1673 100% .

POTED 1799 41% .

POTEE 3288 85% .

POTEF 3288 89% .

POTEG 1567 85% .

POTEH 1678 79% .

POTEM 1567 72% .

POU1F1 1132 100% POU1F1-Related Combined Pituitary Hormone Deficiency

POU1F1 1132 100% Choriodal Dystrophy, Central Areolar 2

POU2AF1 791 99% .

POU2F1 2397 97% .

POU2F2 1978 86% .

POU2F3 1363 98% .

POU3F1 1360 47% .

POU3F2 1336 80% .

POU3F3 1507 56% .

POU3F4 1090 97% DFNX2 Nonsyndromic Hearing Loss and Deafness

POU4F1 1268 70% .

POU4F2 1238 100% .

POU4F3 1025 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

POU4F3 1025 100% DFNA15 Nonsyndromic Hearing Loss and Deafness

POU5F1 1228 100% .

POU5F1B 1084 100% .

POU5F2 991 100% .

POU6F1 926 98% .

POU6F2 2625 100% .

PPA1 914 93% .

PPA2 1053 100% .

PPAN 1470 87% .

PPAN-P2RY11 3915 95% .

PPAP2A 1038 96% .

PPAP2B 960 100% .

PPAP2C 1166 90% .

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PPAPDC1A 844 93% .

PPAPDC1B 1109 93% .

PPAPDC2 892 91% .

PPAPDC3 824 99% .

PPARA 1431 100% .

PPARD 1838 99% .

PPARG 1778 100% Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension

PPARG 1778 100% Cardiovascular Disease Risk Factor (Carotid Intimal Medial Thickness 1)

PPARG 1778 100% Familial Partial Lipodystrophy Type 3

PPARG 1778 100% Obesity, PPARG-Related

PPARG 1778 100% Choriodal Dystrophy, Central Areolar 2

PPARGC1A 2449 100% .

PPARGC1B 3127 96% .

PPAT 1598 100% .

PPBP 399 100% .

PPCDC 635 100% .

PPCS 1056 100% .

PPDPF 357 100% .

PPEF1 2183 100% .

PPEF2 2326 100% .

PPFIA1 3899 100% .

PPFIA2 4315 100% .

PPFIA3 3697 89% .

PPFIA4 2174 96% .

PPFIBP1 3434 100% .

PPFIBP2 2723 98% .

PPHLN1 2409 100% .

PPIA 518 100% .

PPIAL4A 1497 16% .

PPIAL4B 1497 16% .

PPIAL4C 998 0% .

PPIAL4D 998 3% .

PPIAL4E 499 93% .

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PPIAL4F 998 3% .

PPIAL4G 499 100% .

PPIB 671 97% PPIB-Related Osteogenesis Imperfecta

PPIC 659 94% .

PPID 1153 100% .

PPIE 1165 98% .

PPIF 648 70% .

PPIG 2313 100% .

PPIH 570 100% .

PPIL1 517 100% .

PPIL2 1779 99% .

PPIL3 620 82% .

PPIL4 1531 99% .

PPIL6 1050 79% .

PPIP5K1 4673 36% .

PPIP5K2 3785 100% .

PPL 5359 98% .

PPM1A 2418 100% .

PPM1B 1811 100% .

PPM1D 1842 92% .

PPM1E 2296 88% .

PPM1F 1393 90% .

PPM1G 1681 92% .

PPM1H 1585 99% .

PPM1J 1558 90% .

PPM1K 1143 100% .

PPM1L 1099 100% .

PPM1M 1046 89% .

PPM1N 1313 77% .

PPME1 1217 100% .

PPOX 1482 100% Variegate Porphyria

PPOX 1482 100% Choriodal Dystrophy, Central Areolar 2

PPP1CA 1223 100% .

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PPP1CB 1016 94% .

PPP1CC 1094 99% .

PPP1R10 2895 97% .

PPP1R11 393 100% .

PPP1R12A 3328 99% .

PPP1R12B 4170 100% .

PPP1R12C 2437 69% .

PPP1R13B 3341 100% .

PPP1R13L 2535 71% .

PPP1R14A 460 51% .

PPP1R14B 460 96% .

PPP1R14C 514 91% .

PPP1R14D 742 84% .

PPP1R15A 2033 100% .

PPP1R15B 2150 100% .

PPP1R16A 1627 75% .

PPP1R16B 1744 97% .

PPP1R17 484 100% .

PPP1R18 1854 95% .

PPP1R1A 544 80% .

PPP1R1B 708 98% .

PPP1R1C 350 100% .

PPP1R2 642 98% .

PPP1R21 2431 100% .

PPP1R26 3634 96% .

PPP1R27 477 75% .

PPP1R32 1326 100% .

PPP1R35 778 81% .

PPP1R36 1317 96% .

PPP1R3A 3385 100% .

PPP1R3B 862 100% .

PPP1R3C 962 100% .

PPP1R3D 904 74% .

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PPP1R3F 2563 67% .

PPP1R3G 1081 23% .

PPP1R42 707 100% .

PPP1R7 1123 100% .

PPP1R8 1378 96% .

PPP1R9A 4851 100% .

PPP1R9B 2490 81% .

PPP2CA 958 100% .

PPP2CB 958 99% .

PPP2R1A 1830 96% .

PPP2R1B 2089 100% .

PPP2R2A 1425 97% .

PPP2R2B 1506 99% Spinocerebellar Ataxia Type12

PPP2R2C 1380 99% .

PPP2R2D 1292 100% .

PPP2R3A 3912 100% .

PPP2R3B 3560 45% .

PPP2R3C 1414 100% .

PPP2R4 1223 97% .

PPP2R5A 1513 94% .

PPP2R5B 1546 90% .

PPP2R5C 2125 94% .

PPP2R5D 2298 100% .

PPP2R5E 1456 100% .

PPP3CA 1622 100% .

PPP3CB 1723 95% .

PPP3CC 1595 97% .

PPP3R1 537 99% .

PPP3R2 526 100% .

PPP4C 956 100% .

PPP4R1 3073 98% .

PPP4R2 1290 97% .

PPP4R4 2795 100% .

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PPP5C 1552 97% .

PPP6C 1222 97% .

PPP6R1 2738 95% .

PPP6R2 3215 93% .

PPP6R3 2884 98% .

PPPDE1 605 100% .

PPPDE2 531 98% .

PPRC1 5051 97% .

PPT1 957 100% Neuronal Ceroid-Lipofuscinosis, Juvenile

PPT1 957 100% Neuronal Ceroid-Lipofuscinosis, Classic Late Infantile

PPT1 957 100% Neuronal Ceroid-Lipofuscinosis, Infantile

PPT1 957 100% Neuronal Ceroid-Lipofuscinoses

PPT1 957 100% PPT1-Related Neuronal Ceroid-Lipofuscinosis

PPT2 1158 99% .

PPTC7 939 78% .

PPWD1 1985 100% .

PPY 300 71% .

PPYR1 1132 100% .

PQBP1 1412 94% Renpenning Syndrome 1

PQLC1 1048 99% .

PQLC2 1038 100% .

PQLC3 637 77% .

PRAC 182 43% .

PRADC1 587 90% .

PRAF2 549 75% .

PRAM1 2053 98% .

PRAME 1546 100% .

PRAMEF1 1437 100% .

PRAMEF10 1437 92% .

PRAMEF11 1323 100% .

PRAMEF12 1464 100% .

PRAMEF13 1437 36% .

PRAMEF14 2730 38% .

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PRAMEF15 2898 6% .

PRAMEF16 1437 28% .

PRAMEF17 1437 62% .

PRAMEF18 2904 34% .

PRAMEF19 2904 34% .

PRAMEF2 1437 100% .

PRAMEF20 2880 11% .

PRAMEF21 2880 11% .

PRAMEF22 2916 23% .

PRAMEF3 1458 6% .

PRAMEF4 1449 100% .

PRAMEF5 2886 34% .

PRAMEF6 2886 45% .

PRAMEF7 2874 25% .

PRAMEF8 4311 17% .

PRAMEF9 2898 6% .

PRAP1 614 100% .

PRB1 3708 100% .

PRB2 1263 100% .

PRB3 946 98% .

PRB4 756 100% .

PRC1 2180 100% .

PRCC 1504 83% .

PRCD 177 72% Retinitis Pigmentosa, Autosomal Recessive

PRCD 177 72% Retinitis Pigmentosa

PRCD 177 72% PRCD-Related Retinitis Pigmentosa

PRCP 1594 100% .

PRDM1 2519 100% .

PRDM10 4014 100% .

PRDM11 1564 100% .

PRDM12 1124 83% .

PRDM13 2140 79% .

PRDM14 1744 95% .

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PRDM15 4648 90% .

PRDM16 4038 96% .

PRDM2 5522 100% .

PRDM4 2450 100% .

PRDM5 1957 100% Brittle Cornea Syndrome 2

PRDM6 1816 71% .

PRDM7 2045 100% .

PRDM8 2082 68% .

PRDM9 2725 100% .

PRDX1 620 100% .

PRDX2 1119 86% .

PRDX3 1082 96% .

PRDX4 844 95% .

PRDX5 669 99% .

PRDX6 695 100% .

PREB 1290 100% .

PRELID1 680 100% .

PRELID2 660 88% .

PRELP 1157 100% .

PREP 2193 98% .

PREPL 2367 100% .

PREX1 5140 94% .

PREX2 5210 99% .

PRF1 1676 98% Familial Hemophagocytic Lymphohistiocytosis 2

PRF1 1676 98% Familial Hemophagocytic Lymphohistiocytosis

PRG2 1001 93% .

PRG3 698 100% .

PRG4 4263 100% .

PRH1 517 100% .

PRH2 513 100% .

PRHOXNB 530 50% .

PRIC285 8860 77% .

PRICKLE1 2524 100% PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia

UCLA Health System




Feb 2013

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PRICKLE2 2563 100% Progressive Myoclonic Epilepsy 5

PRICKLE3 1884 83% .

PRICKLE4 1179 100% .

PRIM1 1315 100% .

PRIM2 1582 100% .

PRIMA1 478 70% .

PRKAA1 1765 100% .

PRKAA2 1695 97% .

PRKAB1 841 100% .

PRKAB2 847 89% .

PRKACA 1122 96% .

PRKACB 1300 100% .

PRKACG 1060 100% .

PRKAG1 1221 100% .

PRKAG2 1924 99% Wolff-Parkinson-White Syndrome

PRKAG2 1924 99% Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, PRKAG2-Related (268573)

PRKAG2 1924 99% Glycogen Storage Disease of Heart, Lethal Congenital

PRKAG2 1924 99% Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, PRKAG2-Related

PRKAG3 1522 98% .

PRKAR1A 1186 100% Carney Complex

PRKAR1A 1186 100% Acrodysostosis with Hormone Resistance

PRKAR1B 1186 89% .

PRKAR2A 1259 89% .

PRKAR2B 1301 78% .

PRKCA 2087 100% .

PRKCB 2247 100% .

PRKCD 2099 99% .

PRKCDBP 794 91% .

PRKCE 2274 100% .

PRKCG 2166 91% Spinocerebellar Ataxia Type14

PRKCH 2108 100% .

PRKCI 1863 98% .

PRKCQ 2189 100% .

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PRKCSH 1957 91% Polycystic Liver Disease

PRKCZ 1987 80% .

PRKD1 2811 97% .

PRKD2 2845 93% .

PRKD3 2745 100% .

PRKDC 12730 99% .

PRKG1 2403 100% .

PRKG2 2361 100% .

PRKRA 1418 97% Dystonia 16

PRKRIP1 579 98% .

PRKRIR 2306 96% .

PRKX 1109 84% .

PRL 704 99% .

PRLH 272 69% .

PRLHR 1117 98% .

PRLR 3937 100% .

PRM1 164 100% .

PRM2 317 100% .

PRM3 313 64% .

PRMT1 1160 100% .

PRMT10 2586 100% .

PRMT2 1522 97% .

PRMT3 1747 99% .

PRMT5 2045 100% .

PRMT6 1132 97% .

PRMT7 2147 96% .

PRMT8 1225 100% .

PRND 535 100% .

PRNP 766 100% Gerstmann-Straussler-Scheinker Disease

PRNP 766 100% Familial Creutzfeldt-Jakob Disease

PRNP 766 100% Fatal Familial Insomnia

PRNP 766 100% Genetic Prion Diseases

PRNP 766 100% Huntington Disease-Like 1

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PRNP 766 100% Choriodal Dystrophy, Central Areolar 2

PROC 1418 90% Protein C Deficiency

PROCA1 1027 100% .

PROCR 733 98% .

PRODH 2072 74% Schizophrenia

PRODH 2072 74% Hyperprolinemia, Type I

PRODH 2072 74% Schizophrenia 4

PRODH2 1655 90% .

PROK1 330 100% .

PROK2 406 75% Kallmann Syndrome

PROK2 406 75% Kallmann Syndrome 4

PROKR1 1190 100% .

PROKR2 1163 100% Kallmann Syndrome

PROKR2 1163 100% Kallmann Syndrome 3

PROL1 755 100% .

PROM1 2702 100% Retinitis Pigmentosa, Autosomal Recessive

PROM1 2702 100% Retinitis Pigmentosa

PROM1 2702 100% Cone-Rod Dystrophy 12

PROM1 2702 100% PROM1-Related Retinitis Pigmentosa

PROM2 2597 95% .

PROP1 693 100% PROP1-Related Combined Pituitary Hormone Deficiency

PROP1 693 100% Choriodal Dystrophy, Central Areolar 2

PROS1 2091 100% Protein S Deficiency

PROS1 2091 100% Choriodal Dystrophy, Central Areolar 2

ProSAPiP1 2034 87% .

PROSC 860 89% .

PROSER1 2887 100% .

PROX1 2230 100% .

PROX2 3106 100% .

PROZ 1235 90% .

PRPF18 1069 100% .

PRPF19 1579 95% .

PRPF3 2112 100% Retinitis Pigmentosa, Autosomal Dominant

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PRPF3 2112 100% Retinitis Pigmentosa

PRPF3 2112 100% PRPF 3-Related Retinitis Pigmentosa



PRPF31 1552 78% PRPF31-Related Retinitis Pigmentosa

PRPF38A 979 100% .

PRPF38B 1665 100% .

PRPF39 2062 100% .

PRPF4 1810 100% .

PRPF40A 2897 100% .

PRPF40B 2837 100% .

PRPF4B 3084 99% .







PRPH 1449 87% .

PRPH2 1053 100% Retinitis Pigmentosa, Autosomal Dominant

PRPH2 1053 100% Retinitis Pigmentosa

PRPH2 1053 100% Patterned Dystrophy of Retinal Pigment Epithelium

PRPH2 1053 100% PRPH2-Related Retinitis Pigmentosa

PRPH2 1053 100% PRPH2-Related Cone-Rod Dystrophy

PRPH2 1053 100% PRPH2-Related Adult-Onset Vitelliform Macular Dystrophy

PRPH2 1053 100% PRPH2-Related Fundus Albipunctatus

PRPH2 1053 100% Choriodal Dystrophy, Central Areolar 2

PRPS1 1163 100% Charcot-Marie-Tooth Neuropathy X Type 5

PRPS1 1163 100% Charcot-Marie-Tooth Neuropathy X

PRPS1 1163 100% PRPS1-Related Disorders

PRPS1 1163 100% Arts Syndrome

PRPS1 1163 100% Phosphoribosylpyrophosphate Synthetase Superactivity

PRPS1 1163 100% PRPS1-Related Charcot-Marie-Tooth Neuropathy X Type 5

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PRPS1 1163 100% DFNX1 (DFN2) Nonsyndromic Hearing Loss and Deafness

PRPS1 1163 100% DFNX1 Nonsyndromic Hearing Loss and Deafness

PRPS1L1 961 100% .

PRPS2 1191 99% .

PRPSAP1 1198 86% .

PRPSAP2 1327 100% .

PRR11 1119 100% .

PRR12 6167 83% .

PRR13 846 84% .

PRR14 1802 100% .

PRR14L 6488 100% .

PRR15 394 90% .

PRR15L 316 100% .

PRR16 854 89% .

PRR18 892 50% .

PRR19 1079 100% .

PRR20A 3370 0% .

PRR20B 3370 0% .

PRR20C 3370 0% .

PRR20D 3370 0% .

PRR20E 3370 0% .

PRR21 1174 66% .

PRR22 1281 67% .

PRR23A 805 75% .

PRR23B 802 88% .

PRR23C 793 78% .

PRR24 433 0% .

PRR25 1221 71% .

PRR3 583 100% .

PRR4 726 100% .

PRR5 1627 82% .

PRR5-ARHGAP8 1755 94% .

PRR5L 1544 100% .

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PRR7 833 68% .

PRR9 355 100% .

PRRC1 1370 100% .

PRRC2A 6594 100% .

PRRC2B 6814 100% .

PRRC2C 8586 97% .

PRRG1 751 89% .

PRRG2 633 69% .

PRRG3 708 100% .

PRRG4 701 100% .

PRRT1 937 62% .

PRRT2 2070 100% Familial Paroxysmal Kinesigenic Dyskinesia

PRRT3 2958 70% .

PRRT4 6370 25% .

PRRX1 813 97% .

PRRX2 778 63% .

PRSS1 764 100% Hereditary Pancreatitis

PRSS1 764 100% PRSS1-Related Hereditary Pancreatitis

PRSS12 2680 93% Mental Retardation, Autosomal Recessive 1

PRSS16 1593 95% .

PRSS2 416 90% .

PRSS21 1425 83% .

PRSS22 978 88% .

PRSS23 1156 100% .

PRSS27 897 91% .

PRSS3 1088 79% .

PRSS33 867 49% .

PRSS35 1246 100% .

PRSS36 2628 82% .

PRSS37 986 100% .

PRSS38 1001 100% .

PRSS41 977 70% .

PRSS42 902 79% .

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PRSS45 703 100% .

PRSS48 1007 100% .

PRSS50 1182 98% .

PRSS53 1706 91% .

PRSS54 1208 100% .

PRSS55 1173 92% .

PRSS56 1864 0% .

PRSS57 872 60% .

PRSS58 746 100% .

PRSS8 1056 100% .

PRTFDC1 714 98% .

PRTG 3533 97% .

PRTN3 791 72% .

PRUNE 1394 100% .

PRUNE2 9343 100% .

PRX 4729 92% Charcot-Marie-Tooth Neuropathy Type 4

PRX 4729 92% Charcot-Marie-Tooth Neuropathy Type 4F

PRY 912 0% .

PRY2 912 0% .

PSAP 1991 97% Metachromatic Leukodystrophy due to Saposin B Deficiency

PSAP 1991 97% Combined Saposin Deficiency

PSAP 1991 97% Krabbe Disease, Atypical, due to Saposin A Deficiency

PSAP 1991 97% Gaucher Disease, Atypical, due to Saposin C Deficiency

PSAPL1 1570 99% .

PSAT1 1149 99% .

PSCA 357 88% .

PSD 3139 97% .

PSD2 2372 100% .

PSD3 3244 100% .

PSD4 3235 95% .

PSEN1 1535 100% Early-Onset Familial Alzheimer Disease

PSEN1 1535 100% Dilated Cardiomyopathy

PSEN1 1535 100% Alzheimer Disease Type 3

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PSEN1 1535 100% PSEN1-Related Dilated Cardiomyopathy

PSEN1 1535 100% Choriodal Dystrophy, Central Areolar 2

PSEN2 1493 100% Early-Onset Familial Alzheimer Disease

PSEN2 1493 100% Dilated Cardiomyopathy

PSEN2 1493 100% Alzheimer Disease Type 4

PSEN2 1493 100% PSEN2-Related Dilated Cardiomyopathy

PSEN2 1493 100% Choriodal Dystrophy, Central Areolar 2

PSENEN 318 100% .

PSG1 1634 100% .

PSG11 1028 100% .

PSG2 1028 100% .

PSG3 1311 100% .

PSG4 1284 93% .

PSG5 1028 100% .

PSG6 1371 95% .

PSG7 1284 100% .

PSG8 1619 100% .

PSG9 1305 94% .

PSIP1 1682 100% .

PSKH1 1283 100% .

PSKH2 1170 99% .

PSMA1 1050 100% .

PSMA2 737 100% .

PSMA3 889 100% .

PSMA4 900 100% .

PSMA5 893 100% .

PSMA6 769 100% .

PSMA7 775 90% .

PSMA8 1077 100% .

PSMB1 750 100% .

PSMB10 854 93% .

PSMB11 907 100% .

PSMB2 892 100% .

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PSMB3 642 100% .

PSMB4 823 100% .

PSMB5 1495 100% .

PSMB6 744 86% .

PSMB7 866 100% .

PSMB8 994 100% Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

PSMB9 684 91% .

PSMC1 1367 100% .

PSMC2 1486 100% .

PSMC3 1368 88% .

PSMC3IP 1046 100% .

PSMC4 1492 100% .

PSMC5 1269 95% .

PSMC6 1268 100% .

PSMD1 2958 99% .

PSMD10 1030 100% .

PSMD11 1321 100% .

PSMD12 1415 100% .

PSMD13 1624 100% .

PSMD14 973 100% .

PSMD2 2811 95% .

PSMD3 1653 86% .

PSMD4 1174 98% .

PSMD5 1555 100% .

PSMD6 1202 99% .

PSMD7 1003 98% .

PSMD8 1081 84% .

PSMD9 696 84% .

PSME1 1053 96% .

PSME2 764 100% .

PSME3 960 100% .

PSME4 5716 97% .

PSMF1 844 100% .

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PSMG1 895 98% .

PSMG2 999 100% .

PSMG3 377 100% .

PSMG4 715 58% .

PSORS1C1 475 100% .

PSORS1C2 419 99% .

PSPC1 1608 100% .

PSPH 698 100% .

PSPN 479 43% .

PSRC1 1553 99% .

PSTK 1071 98% .

PSTPIP1 1311 95% Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

PSTPIP2 1061 97% .

PTAFR 1033 100% .

PTAR1 1241 96% .

PTBP1 1816 99% .

PTBP2 1652 99% .

PTBP3 1995 100% .

PTCD1 2157 100% .

PTCD2 1207 100% .

PTCD3 2166 100% .

PTCH1 4839 98% Nevoid Basal Cell Carcinoma Syndrome

PTCH1 4839 98% Holoprosencephaly

PTCH1 4839 98% PTCH1-Related Holoprosencephaly

PTCH1 4839 98% Choriodal Dystrophy, Central Areolar 2

PTCH2 3979 96% .

PTCHD1 2679 99% Autism Spectrum Disorders

PTCHD2 4259 100% .

PTCHD3 2320 100% .

PTCRA 1613 74% .

PTDSS1 1474 100% .

PTDSS2 1512 83% .

PTEN 1248 100% Cowden Syndrome

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PTEN 1248 100% Bannayan-Riley-Ruvalcaba Syndrome

PTEN 1248 100% PTEN Hamartoma Tumor Syndrome (PHTS)

PTEN 1248 100% Macrocephaly/Autism Syndrome

PTEN 1248 100% VACTERL Association with Hydrocephalus

PTEN 1248 100% Choriodal Dystrophy, Central Areolar 2

PTER 1066 100% .

PTF1A 995 49% Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

PTGDR 1088 100% .

PTGDR2 1192 44% .

PTGDS 597 100% .

PTGER1 1217 31% .

PTGER2 1085 100% .

PTGER3 1797 92% .

PTGER4 1475 100% .

PTGES 471 50% .

PTGES2 1316 82% .

PTGES3 515 100% .

PTGFR 1449 100% .

PTGFRN 2676 98% .

PTGIR 1169 61% .

PTGIS 1543 94% .

PTGR1 1057 97% .

PTGR2 1092 100% .

PTGS1 2135 100% .

PTGS2 1855 97% .

PTH 356 100% PTH-Related Familial Isolated Hypoparathyroidism

PTH 356 100% Familial Isolated Hypoparathyroidism

PTH1R 1838 92% Chondrodysplasia, Blomstrand Type (3590)

PTH1R 1838 92% Chondrodysplasia, Blomstrand Type

PTH1R 1838 92% Metaphyseal Chondrodysplasia, Jansen Type

PTH1R 1838 92% Choriodal Dystrophy, Central Areolar 2

PTH2 311 99% .

PTH2R 1705 100% .

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PTHLH 981 100% .

PTK2 3697 99% .

PTK2B 3150 100% .

PTK6 1546 84% .

PTK7 3448 99% .

PTMA 457 99% .

PTMS 329 85% .

PTN 523 100% .

PTOV1 1299 84% .

PTP4A1 542 100% .

PTP4A2 524 100% .

PTP4A3 542 85% .

PTPDC1 4048 100% .

PTPLA 895 71% .

PTPLAD1 1133 100% .

PTPLAD2 727 94% .

PTPLB 793 80% .

PTPMT1 1626 87% .

PTPN1 1348 95% .

PTPN11 1842 99% PTPN11-Related Noonan Syndrome

PTPN11 1842 99% PTPN11-Related LEOPARD Syndrome

PTPN11 1842 99% Noonan Syndrome

PTPN11 1842 99% LEOPARD Syndrome

PTPN11 1842 99% Metachondromatosis

PTPN12 2558 100% .

PTPN13 7812 100% .

PTPN14 3636 100% .

PTPN18 1443 81% .

PTPN2 1522 97% .

PTPN20A 3002 20% .

PTPN20B 3002 20% .

PTPN21 3597 99% .

PTPN22 2643 100% .

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PTPN23 5011 98% .

PTPN3 3068 100% .

PTPN4 2885 100% .

PTPN5 1866 94% .

PTPN6 2271 100% .

PTPN7 1722 100% .

PTPN9 1834 96% .

PTPRA 2493 100% .

PTPRB 6842 99% .

PTPRC 4096 100% .

PTPRCAP 629 81% .

PTPRD 6071 99% .

PTPRE 2218 100% .

PTPRF 5852 94% .

PTPRG 4458 98% .

PTPRH 3428 98% .

PTPRJ 4123 98% .

PTPRK 4465 99% .

PTPRM 4530 100% .

PTPRN 3150 97% .

PTPRN2 3140 86% .

PTPRO 3892 100% .

PTPRQ 6552 9% .

PTPRR 2145 100% .

PTPRS 5995 89% .

PTPRT 4511 97% .

PTPRU 4751 95% .

PTPRZ1 10628 100% .

PTRF 1181 99% .

PTRH1 665 69% .

PTRH2 544 100% .

PTRHD1 431 100% .

PTS 462 83% 6-Pyruvoyltetrahydropterin Synthase Deficiency

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PTS 462 83% Choriodal Dystrophy, Central Areolar 2

PTTG1 629 100% .

PTTG1IP 567 81% .

PTTG2 580 100% .

PTX3 1158 78% .

PTX4 1434 100% .

PUF60 1828 93% .

PUM1 3790 100% .

PUM2 3275 100% .

PURA 973 89% .

PURB 943 99% .

PURG 2205 95% .

PUS1 1541 87% Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1

PUS1 1541 87% Congenital Sideroblastic Anemia

PUS10 1658 100% .

PUS3 1458 100% .

PUS7 2046 100% .

PUS7L 2138 100% .

PUSL1 944 64% .

PVALB 349 100% .

PVR 1699 93% .

PVRIG 1001 78% .

PVRL1 2024 100% Cleft Lip +/- Cleft Palate

PVRL2 2055 84% .

PVRL3 2259 93% .

PVRL4 1569 100% .

PWP1 1566 100% .

PWP2 2844 95% .

PWWP2A 4106 73% .

PWWP2B 3451 87% .

PXDC1 716 89% .

PXDN 4532 95% .

PXDNL 4484 94% .

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PXK 1809 94% .

PXMP2 608 80% .

PXMP4 923 100% .

PXN 2140 93% .

PXT1 417 59% .

PYCARD 600 98% .

PYCR1 1243 94% PYCR1-Related Cutis Laxa

PYCR2 991 93% .

PYCRL 885 83% .

PYDC1 274 100% .

PYDC2 298 100% .

PYGB 2612 100% .

PYGL 2624 100% Glycogen Storage Disease Type VI

PYGL 2624 100% Choriodal Dystrophy, Central Areolar 2

PYGM 2717 99% Glycogen Storage Disease Type V

PYGM 2717 99% Choriodal Dystrophy, Central Areolar 2

PYGO1 1272 100% .

PYGO2 1233 91% .

PYHIN1 1688 100% .

PYROXD1 1551 97% .

PYROXD2 1810 99% .

PYY 306 100% .

PZP 4593 100% .

QARS 2424 100% .

QDPR 763 100% BH4-Deficient Hyperphenylalaninemia C

QDPR 763 100% Choriodal Dystrophy, Central Areolar 2

QKI 1492 100% .

QPCT 1114 99% .

QPCTL 1177 90% .

QPRT 910 91% .

QRFP 415 100% .

QRFPR 1320 100% .

QRICH1 2367 100% .

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QRICH2 5068 100% .

QRSL1 1631 99% .

QSER1 5252 100% .

QSOX1 3085 89% .

QSOX2 2145 94% .

QTRT1 1252 99% .

QTRTD1 1280 100% .

R3HCC1 782 57% .

R3HDM1 3396 100% .

R3HDM2 3019 99% .

R3HDM4 839 79% .

R3HDML 782 100% .

RAB10 627 100% .

RAB11A 900 100% .

RAB11B 677 94% .

RAB11FIP1 3876 98% .

RAB11FIP2 1559 100% .

RAB11FIP3 2346 71% .

RAB11FIP4 1974 69% .

RAB11FIP5 1982 98% .

RAB12 759 91% .

RAB13 644 100% .

RAB14 676 100% .

RAB15 655 99% .

RAB17 659 100% .

RAB18 889 92% Warburg Micro Syndrome 3

RAB19 666 100% .

RAB1A 642 100% .

RAB1B 630 94% .

RAB20 713 100% .

RAB21 706 96% .

RAB22A 613 94% .

RAB23 738 100% .

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RAB24 644 100% .

RAB25 662 100% .

RAB26 807 75% .

RAB27A 686 100% Griscelli Syndrome, Type 2

RAB27B 677 100% .

RAB28 834 91% .

RAB2A 671 93% .

RAB2B 755 100% .

RAB30 628 100% .

RAB31 616 100% .

RAB32 690 99% .

RAB33A 722 100% .

RAB33B 698 100% .

RAB34 1555 97% .

RAB35 763 93% .

RAB36 1046 95% .

RAB37 1011 91% .

RAB38 648 100% .

RAB39A 662 100% .

RAB39B 650 100% X-Linked Mental Retardation 72

RAB3A 679 100% .

RAB3B 676 100% .

RAB3C 704 100% .

RAB3D 676 100% .

RAB3GAP1 3067 100% Warburg Micro Syndrome 1

RAB3GAP2 4322 100% Warburg Micro Syndrome 2

RAB3GAP2 4322 100% Martsolf Syndrome

RAB3IL1 1189 78% .

RAB3IP 1911 100% .

RAB40A 838 100% .

RAB40AL 841 100% .

RAB40B 861 100% .

RAB40C 1097 100% .

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RAB41 698 100% .

RAB42 1093 78% .

RAB43 1047 100% .

RAB4A 685 95% .

RAB4B 670 97% .

RAB5A 668 100% .

RAB5B 668 100% .

RAB5C 841 100% .

RAB6A 832 100% .

RAB6B 659 100% .

RAB6C 769 100% .

RAB7A 644 100% Charcot-Marie-Tooth Neuropathy Type 2

RAB7A 644 100% Charcot-Marie-Tooth Neuropathy Type 2B

RAB7L1 818 100% .

RAB8A 656 100% .

RAB8B 656 100% .

RAB9A 610 100% .

RAB9B 610 100% .

RABAC1 578 99% .

RABEP1 2661 99% .

RABEP2 1762 93% .

RABEPK 1147 100% .

RABGAP1 3310 100% .

RABGAP1L 2643 100% .

RABGEF1 1508 100% .

RABGGTA 1768 100% .

RABGGTB 1032 100% .

RABIF 380 95% .

RABL2A 719 100% .

RABL2B 1016 99% .

RABL3 743 100% .

RABL5 785 99% .

RAC1 664 95% .

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RAC2 603 89% .

RAC3 603 93% .

RACGAP1 1963 100% .

RAD1 869 100% .

RAD17 2284 100% .

RAD18 1540 100% .

RAD21 1948 100% .

RAD21L1 1723 100% .

RAD23A 1128 100% .

RAD23B 1354 97% .

RAD50 4039 100% .

RAD51 1309 90% .

RAD51AP1 1099 100% .

RAD51AP2 3492 100% .

RAD51B 1237 100% .

RAD51C 1438 100% Fanconi Anemia

RAD51C 1438 100% RAD51C-Related Familial Susceptibility to Breast-Ovarian Cancer

RAD51C 1438 100% RAD51C-Related Fanconi Anemia

RAD51D 1210 100% RAD51D-Related Familial Susceptibility to Breast-Ovarian Cancer

RAD52 1301 100% .

RAD54B 3075 100% .

RAD54L 2316 100% .

RAD54L2 4488 100% .

RAD9A 1339 97% .

RAD9B 1338 100% .

RADIL 3284 76% .

RAE1 1151 100% .

RAET1E 1442 100% .

RAET1G 1025 79% .

RAET1L 757 100% .

RAF1 2011 100% Noonan Syndrome

RAF1 2011 100% RAF1-Related Noonan Syndrome

RAF1 2011 100% LEOPARD Syndrome

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RAF1 2011 100% RAF1-Related LEOPARD Syndrome

RAG1 3136 100% Omenn Syndrome

RAG1 3136 100% Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, RAG1/RAG2-Related

RAG2 1588 100% Omenn Syndrome

RAG2 1588 100% Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, RAG1/RAG2-Related

RAI1 5737 98% Smith-Magenis Syndrome

RAI14 3076 98% .

RAI2 4791 100% .

RALA 637 100% .

RALB 637 100% .

RALBP1 2004 100% .

RALGAPA1 6424 100% .

RALGAPA2 5778 98% .

RALGAPB 4601 100% .

RALGDS 2839 84% .

RALGPS1 2056 96% .

RALGPS2 1828 100% .

RALY 949 100% .

RALYL 1234 97% .

RAMP1 459 87% .

RAMP2 544 81% .

RAMP3 459 86% .

RAN 675 96% .

RANBP1 630 97% .

RANBP10 1919 94% .

RANBP17 3379 99% .

RANBP2 9791 100% Acute Necrotizing Encephalopathy 1, Susceptibility to

RANBP3 1904 97% .

RANBP3L 1533 95% .

RANBP6 16610 100% .

RANBP9 2246 85% .

RANGAP1 1824 93% .

RANGRF 1734 100% .

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RAP1A 579 100% .

RAP1B 579 100% .

RAP1GAP 2510 82% .

RAP1GAP2 2289 92% .

RAP1GDS1 2146 100% .

RAP2A 560 100% .

RAP2B 556 97% .

RAP2C 560 100% .

RAPGEF1 3398 100% .

RAPGEF2 4596 100% .

RAPGEF3 3101 87% .

RAPGEF4 3176 98% .

RAPGEF5 2285 100% .

RAPGEF6 5653 100% .

RAPGEFL1 1423 96% .

RAPH1 3976 99% .

RAPSN 1271 78% Congenital Myasthenic Syndromes

RAPSN 1271 78% RAPSN-Related Congenital Myasthenic Syndrome

RAPSN 1271 78% RAPSN-Related Fetal Akinesia Deformation Sequence

RAPSN 1271 78% Choriodal Dystrophy, Central Areolar 2

RARA 1588 97% .

RARB 1525 100% .

RARG 2006 86% .

RARRES1 1080 74% .

RARRES2 508 74% .

RARRES3 511 100% .

RARS 2043 98% .

RARS2 1817 100% Pontocerebellar Hypoplasia Type 6

RASA1 3256 95% RASA1-Related Disorders

RASA1 3256 95% Parkes Weber Syndrome, RASA1-Related

RASA1 3256 95% Capillary Malformation-Arteriovenous Malformation Syndrome

RASA1 3256 95% Hereditary Benign Telangiectasia

RASA2 2646 95% .

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RASA3 2601 92% .

RASA4 2496 17% .

RASAL1 2969 86% .

RASAL2 4157 97% .

RASAL3 3104 70% .

RASD1 1418 98% .

RASD2 809 100% .

RASEF 2291 91% .

RASGEF1A 1494 94% .

RASGEF1B 1474 100% .

RASGEF1C 1453 93% .

RASGRF1 4574 100% .

RASGRF2 3822 100% .

RASGRP1 2462 98% .

RASGRP2 1890 88% .

RASGRP3 2258 100% .

RASGRP4 2706 89% .

RASIP1 2936 55% .

RASL10A 761 47% .

RASL10B 624 98% .

RASL11A 745 97% .

RASL11B 763 100% .

RASL12 821 93% .

RASSF1 1442 81% .

RASSF10 1528 89% .

RASSF2 1021 100% .

RASSF3 737 100% .

RASSF4 1006 100% .

RASSF5 1562 75% .

RASSF6 1257 95% .

RASSF7 1493 77% .

RASSF8 1321 100% .

RASSF9 1316 96% .

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RAVER1 2323 85% .

RAVER2 2085 88% .

RAX 1053 63% Anophthalmia/Microphthalmia

RAX 1053 63% RAX-Related Anophthalmia/Microphthalmia

RAX 1053 63% Choriodal Dystrophy, Central Areolar 2

RAX2 563 61% Age-Related Macular Degeneration

RAX2 563 61% Age-Related Macular Degeneration 6

RAX2 563 61% Cone-Rod Dystrophy 11

RB1 2895 95% Retinoblastoma

RB1 2895 95% Choriodal Dystrophy, Central Areolar 2

RB1CC1 5014 100% .

RBAK 2161 100% .

RBAK-LOC389458 250 100% .

RBBP4 1630 99% .

RBBP5 2069 96% .

RBBP6 5600 99% .

RBBP7 1478 100% .

RBBP8 2882 100% .

RBBP9 581 100% .

RBCK1 1645 85% .

RBFA 1446 100% .

RBFOX1 1695 100% .

RBFOX2 1812 92% .

RBFOX3 983 31% .

RBKS 1001 100% .

RBL1 3482 99% .

RBL2 3508 95% .

RBM10 3071 93% TARP Syndrome

RBM11 866 100% .

RBM12 2803 100% .

RBM12B 3010 100% .

RBM14 3703 100% .

RBM14-RBM4 1052 100% .

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RBM15 2942 100% .

RBM15B 2677 87% .

RBM17 1250 100% .

RBM18 593 100% .

RBM19 2979 100% .

RBM20 3740 77% Dilated Cardiomyopathy

RBM20 3740 77% RBM20-Related Dilated Cardiomyopathy

RBM22 1307 100% .

RBM23 1372 96% .

RBM24 1082 100% .

RBM25 2604 100% .

RBM26 3027 100% .

RBM27 3267 98% .

RBM28 2356 100% .

RBM3 494 85% .

RBM33 3585 98% .

RBM34 1443 100% .

RBM38 1044 97% .

RBM39 1712 100% .

RBM4 1241 91% .

RBM41 1450 100% .

RBM42 1483 86% .

RBM43 1090 100% .

RBM44 3215 100% .

RBM45 1461 100% .

RBM46 1618 100% .

RBM47 1798 97% .

RBM48 1124 100% .

RBM4B 1088 100% .

RBM5 2544 100% .

RBM6 3531 100% .

RBM7 821 100% .

RBM8A 549 100% Thrombocytopenia Absent Radius Syndrome

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RBMS1 1393 100% .

RBMS2 1276 100% .

RBMS3 1734 100% .

RBMX 1263 100% .

RBMX2 993 99% .

RBMXL1 1177 100% .

RBMXL2 1183 84% .

RBMXL3 3208 85% .

RBMY1A1 4605 13% .

RBMY1B 6140 16% .

RBMY1D 6140 16% .

RBMY1E 4605 8% .

RBMY1F 3070 11% .

RBMY1J 3070 11% .

RBP1 678 69% .

RBP2 421 100% .

RBP3 3760 100% Retinitis Pigmentosa, Autosomal Recessive

RBP3 3760 100% Retinitis Pigmentosa

RBP3 3760 100% RBP3-Related Retinitis Pigmentosa

RBP4 626 100% .

RBP5 424 96% .

RBP7 421 100% .

RBPJ 1610 97% .

RBPJL 1602 87% .

RBPMS 912 93% .

RBPMS2 658 85% .

RBX1 347 100% .

RC3H1 3478 100% .

RC3H2 3951 100% .

RCAN1 1044 77% Down Syndrome Critical Region

RCAN2 610 100% .

RCAN3 1283 100% .

RCBTB1 1640 100% .

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RCBTB2 1704 100% .

RCC1 1496 99% .

RCC2 1617 94% .

RCCD1 1159 57% .

RCE1 1110 93% .

RCHY1 947 100% .

RCL1 1158 100% .

RCN1 1020 92% .

RCN2 982 85% .

RCN3 1011 64% .

RCOR1 1497 79% .

RCOR2 1620 72% .

RCOR3 2432 98% .

RCSD1 1279 94% .

RCVRN 615 99% .

RD3 596 98% Leber Congenital Amaurosis

RD3 596 98% RD3-Related Leber Congenital Amaurosis

RDBP 1183 100% .

RDH10 1050 73% .

RDH11 985 100% .

RDH12 979 100% Leber Congenital Amaurosis

RDH12 979 100% Retinitis Pigmentosa

RDH12 979 100% RDH12-Related Leber Congenital Amaurosis

RDH12 979 100% LCA3-Related Leber Congenital Amaurosis

RDH12 979 100% RDH12-Related Retinitis Pigmentosa

RDH13 1184 93% .

RDH14 1019 61% .

RDH16 970 100% .

RDH5 973 100% RDH5-Related Fundus Albipunctatus

RDH8 960 100% .

RDM1 1459 100% .

RDX 1804 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

RDX 1804 100% DFNB24 Nonsyndromic Hearing Loss and Deafness

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REC8 1717 100% .

RECK 3000 97% .

RECQL 2006 100% .

RECQL4 3980 96% Rothmund-Thomson Syndrome

RECQL4 3980 96% Baller-Gerold Syndrome

RECQL4 3980 96% Rapadilino Syndrome

RECQL4 3980 96% RECQL4-Related Disorders

RECQL4 3980 96% Choriodal Dystrophy, Central Areolar 2

RECQL5 3227 97% .

REEP1 864 92% Spastic Paraplegia 31

REEP2 791 100% .

REEP3 800 97% .

REEP4 806 99% .

REEP5 590 100% .

REEP6 575 78% .

REG1A 521 100% .

REG1B 521 100% .

REG3A 548 100% .

REG3G 548 100% .

REG4 1079 100% .

REL 1904 98% .

RELA 3717 88% .

RELB 1780 94% .

RELL1 840 98% .

RELL2 936 100% .

RELN 10745 100% Lissencephaly 2

RELN 10745 100% Choriodal Dystrophy, Central Areolar 2

RELT 1333 96% .

REM1 913 88% .

REM2 1043 77% .

REN 1261 98% Familial Juvenile Hyperuricemic Nephropathy Type 2

REN 1261 98% Renal Tubular Dysgenesis, REN-Related

RENBP 1328 91% .

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REP15 715 100% .

REPIN1 3605 96% .

REPS1 2548 100% .

REPS2 2186 87% .

RER1 615 100% .

RERE 4993 85% .

RERG 616 100% .

RERGL 638 100% .

RESP18 715 89% .

REST 3306 100% .

RET 3641 93% Multiple Endocrine Neoplasia Type 2

RET 3641 93% Hirschsprung Disease

RET 3641 93% RET-Related Hirschsprung Disease

RET 3641 93% RET-Related Pheochromocytoma

RET 3641 93% RET-Related Renal Adysplasia

RET 3641 93% Choriodal Dystrophy, Central Areolar 2

RETN 339 78% .

RETNLB 348 100% .

RETSAT 1877 100% .

REV1 3957 100% .

REV3L 9521 100% .

REXO1 3730 75% .

REXO1L1 4064 20% .

REXO2 742 86% .

REXO4 1301 100% .

RFC1 3658 100% .

RFC2 1109 95% .

RFC3 1150 100% .

RFC4 1132 100% .

RFC5 1296 100% .

RFESD 833 100% .

RFFL 1116 100% .

RFK 484 98% .

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RFNG 1028 70% .

RFPL1 962 100% .

RFPL2 1989 100% .

RFPL3 1339 100% .

RFPL4A 872 100% .

RFPL4B 796 100% .

RFT1 1678 96% Congenital Disorders of Glycosylation

RFT1 1678 96% RFT1-CDG (CDG-In)

RFTN1 1773 100% .

RFTN2 1542 96% .

RFWD2 2357 91% .

RFWD3 2373 100% .

RFX1 3020 80% .

RFX2 2240 82% .

RFX3 2784 100% .

RFX4 2485 99% .

RFX5 1887 100% Bare Lymphocyte Syndrome, Type II, Complementation Group E

RFX6 2863 100% .

RFX7 4419 97% .

RFX8 1466 100% .

RFXANK 903 100% MHC Class II Deficiency, Complementation Group B

RFXAP 831 51% Bare Lymphocyte Syndrome, Type II, Complementation Group D

RG9MTD1 1216 100% .

RG9MTD2 1048 100% .

RG9MTD3 983 100% .

RGAG1 4175 100% .

RGAG4 1714 100% .

RGL1 2484 100% .

RGL2 2585 96% .

RGL3 2346 88% .

RGL4 1466 99% .

RGMA 1531 96% .

RGMB 1453 82% .

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RGN 924 94% .

RGNEF 5340 97% .

RGP1 1208 100% .

RGPD1 10678 28% .

RGPD2 10726 29% .

RGPD3 5369 88% .

RGPD4 5369 86% .

RGPD5 16404 19% .

RGPD6 11014 0% .

RGPD8 5390 59% .

RGR 1054 100% Retinitis Pigmentosa, Autosomal Recessive

RGR 1054 100% Retinitis Pigmentosa

RGR 1054 100% RGR-Related Retinitis Pigmentosa

RGS1 650 100% .

RGS10 577 91% .

RGS11 1472 71% .

RGS12 5057 99% .

RGS13 496 100% .

RGS14 1761 96% .

RGS16 629 92% .

RGS17 649 100% .

RGS18 728 100% .

RGS19 674 92% .

RGS2 656 100% .

RGS20 1264 92% .

RGS21 475 100% .

RGS22 3903 99% .

RGS3 4479 92% .

RGS4 1567 92% .

RGS5 908 100% .

RGS6 1587 100% .

RGS7 1532 100% .

RGS7BP 798 100% .

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RGS8 651 100% .

RGS9 2413 100% .

RGS9BP 712 53% .

RGSL1 3315 100% .

RHAG 1270 100% .

RHBDD1 972 100% .

RHBDD2 1523 88% .

RHBDD3 1181 64% .

RHBDF1 2636 90% .

RHBDF2 2852 91% .

RHBDL1 1345 88% .

RHBDL2 940 100% .

RHBDL3 1251 91% .

RHBG 1879 100% .

RHCE 1372 98% .

RHCG 1480 98% .

RHD 1294 73% .

RHEB 587 97% .

RHEBL1 584 100% .

RHO 1067 100% Retinitis Pigmentosa, Autosomal Dominant

RHO 1067 100% Retinitis Pigmentosa, Autosomal Recessive

RHO 1067 100% Retinitis Pigmentosa

RHO 1067 100% RHO-Related Retinitis Pigmentosa

RHO 1067 100% Congenital Stationary Night Blindness, Autosomal Dominant 1

RHO 1067 100% Choriodal Dystrophy, Central Areolar 2

RHOA 598 100% .

RHOB 595 100% .

RHOBTB1 2127 100% .

RHOBTB2 2511 97% .

RHOBTB3 1884 100% .

RHOC 598 100% .

RHOD 653 79% .

RHOF 656 67% .

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RHOG 580 100% .

RHOH 580 100% .

RHOJ 665 100% .

RHOQ 638 100% .

RHOT1 2160 98% .

RHOT2 1933 97% .

RHOU 789 83% .

RHOV 723 91% .

RHOXF1 567 100% .

RHOXF2 1766 45% .

RHOXF2B 1766 45% .

RHPN1 2073 93% .

RHPN2 2121 97% .

RIBC1 1583 100% .

RIBC2 1161 78% .

RIC3 1281 100% .

RIC8A 1654 98% .

RIC8B 1599 94% .

RICTOR 5279 99% .

RIF1 7559 100% .

RIIAD1 295 0% .

RILP 1238 62% .

RILPL1 1240 95% .

RILPL2 652 87% .

RIMBP2 3227 96% .

RIMBP3 4924 59% .

RIMBP3B 9848 7% .

RIMBP3C 9848 7% .

RIMKLA 1196 86% .

RIMKLB 1181 100% .

RIMS1 5797 93% Cone-Rod Dystrophy 7

RIMS2 4342 100% .

RIMS3 951 100% .

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Feb 2013

Page 482


RIMS4 977 92% .

RIN1 2392 72% .

RIN2 2793 100% Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis

RIN3 2998 96% .

RING1 1245 98% .

RINL 1822 70% .

RINT1 2439 99% .

RIOK1 1860 96% .

RIOK2 2284 100% .

RIOK3 1612 100% .

RIPK1 2056 100% .

RIPK2 1667 98% .

RIPK3 1597 100% .

RIPK4 2387 100% .

RIPPLY1 472 100% .

RIPPLY2 403 76% .

RIT1 680 100% .

RIT2 674 100% .

RLBP1 982 99% Retinitis Pigmentosa, Autosomal Recessive

RLBP1 982 99% RLBP1-Related Fundus Albipunctatus

RLBP1 982 99% Retinitis Pigmentosa

RLBP1 982 99% Retinitis Pigmentosa, Autosomal Recessive, Bothnia Type

RLBP1 982 99% Newfoundland Rod-Cone Dystrophy

RLBP1 982 99% Choriodal Dystrophy, Central Areolar 2

RLF 5777 100% .

RLIM 1887 100% .

RLN1 566 100% .

RLN2 1022 90% .

RLN3 437 100% .

RLTPR 4460 90% .

RMI1 1882 100% .

RMI2 452 43% .

RMND1 1394 100% .

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Feb 2013

Page 483


RMND5A 1212 96% .

RMND5B 1218 99% .

RNASE1 475 100% .

RNASE10 655 100% .

RNASE11 604 100% .

RNASE12 448 100% .

RNASE13 475 100% .

RNASE2 490 100% .

RNASE3 487 100% .

RNASE4 448 100% .

RNASE6 457 100% .

RNASE7 475 100% .

RNASE8 469 100% .

RNASE9 1282 99% .

RNASEH1 893 98% .

RNASEH2A 932 89% Aicardi-Goutieres Syndrome

RNASEH2A 932 89% RNASEH2A-Related Aicardi-Goutieres Syndrome

RNASEH2B 1020 90% Aicardi-Goutieres Syndrome

RNASEH2B 1020 90% RNASEH2B-Related Aicardi-Goutieres Syndrome

RNASEH2C 511 84% Aicardi-Goutieres Syndrome

RNASEH2C 511 84% RNASEH2C-Related Aicardi-Goutieres Syndrome

RNASEK 309 100% .

RNASEL 2250 100% Prostate Cancer

RNASET2 807 89% Leukoencephalopathy, Cystic, without Megalencephaly

RND1 719 100% .

RND2 704 83% .

RND3 755 100% .

RNF10 2504 100% .

RNF103 2362 98% .

RNF103-CHMP3 788 100% .

RNF11 477 100% .

RNF111 3013 100% .

RNF112 1952 93% .

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Feb 2013

Page 484


RNF113A 1036 100% .

RNF113B 977 100% .

RNF114 711 86% .

RNF115 951 96% .

RNF121 1020 92% .

RNF122 492 96% .

RNF123 4097 98% .

RNF125 723 99% .

RNF126 972 40% .

RNF128 1725 93% .

RNF13 1182 100% .

RNF130 1296 91% .

RNF133 1135 100% .

RNF135 1922 77% .

RNF138 1102 87% .

RNF139 2003 100% .

RNF14 1985 100% .

RNF141 713 100% .

RNF144A 907 100% .

RNF144B 940 100% .

RNF145 2425 98% .

RNF146 2162 100% .

RNF148 922 100% .

RNF149 1231 100% .

RNF150 1345 97% .

RNF151 754 99% .

RNF152 616 100% .

RNF157 2116 99% .

RNF165 1073 100% .

RNF166 1131 58% .

RNF167 1089 100% .

RNF168 1740 100% RIDDLE Syndrome

RNF169 2151 78% .

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Feb 2013

Page 485


RNF17 5119 100% .

RNF170 1125 100% .

RNF175 1023 93% .

RNF180 1895 93% .

RNF181 482 100% .

RNF182 748 100% .

RNF183 583 100% .

RNF185 603 100% .

RNF186 688 100% .

RNF187 724 33% .

RNF19A 2553 100% .

RNF19B 2410 73% .

RNF2 1035 100% .

RNF20 3004 100% .

RNF207 1973 67% .

RNF208 790 81% .

RNF212 1838 100% .

RNF213 16355 84% .

RNF214 2168 100% .

RNF215 1170 72% .

RNF216 3683 100% .

RNF217 856 100% .

RNF219 2205 100% .

RNF220 1757 100% .

RNF222 667 38% .

RNF224 479 0% .

RNF24 688 91% .

RNF25 1420 100% .

RNF26 1306 100% .

RNF31 3303 98% .

RNF32 1121 100% .

RNF34 1156 100% .

RNF38 1794 100% .

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Feb 2013

Page 486


RNF39 2449 68% .

RNF4 755 100% .

RNF40 3188 95% .

RNF41 1250 100% .

RNF43 2388 97% .

RNF44 1339 60% .

RNF5 567 100% .

RNF6 2070 100% .

RNF7 656 86% .

RNF8 1699 94% .

RNFT1 1344 99% .

RNFT2 1442 97% .

RNGTT 1858 100% .

RNH1 1422 97% .

RNLS 1133 100% .

RNMT 1471 100% .

RNMTL1 1279 100% .

RNPC3 1610 26% .

RNPEP 1997 78% .

RNPEPL1 1521 90% .

RNPS1 946 100% .

ROBO1 5488 100% .

ROBO2 4576 100% Vesicoureteral Reflux 2

ROBO3 4273 95% Familial Horizontal Gaze Palsy with Progressive Scoliosis

ROBO4 3096 98% .

ROCK1 4197 100% .

ROCK2 4299 100% .

ROGDI 908 68% .

ROM1 1068 99% Retinitis Pigmentosa, Autosomal Dominant

ROM1 1068 99% Retinitis Pigmentosa

ROM1 1068 99% ROM1-Related Retinitis Pigmentosa

ROM1 1068 99% Choriodal Dystrophy, Central Areolar 2

ROMO1 248 100% .

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Feb 2013

Page 487


ROPN1 659 100% .

ROPN1B 659 100% .

ROPN1L 713 100% .

ROR1 3116 97% .

ROR2 2868 96% Brachydactyly, Type B1

ROR2 2868 96% ROR2-Related Robinow Syndrome

ROR2 2868 96% ROR2-Related Disorders

RORA 2096 91% .

RORB 1420 100% .

RORC 1612 98% .

ROS1 7216 100% .

RP1 6483 100% Retinitis Pigmentosa, Autosomal Dominant

RP1 6483 100% Retinitis Pigmentosa

RP1 6483 100% RP1-Related Retinitis Pigmentosa

RP1L1 7215 100% Occult Macular Dystrophy



RP2 1073 90% Retinitis Pigmentosa, X-Linked

RP9 690 78% Retinitis Pigmentosa, Autosomal Dominant



RPA1 1919 95% .

RPA2 849 100% .

RPA3 382 100% .

RPA4 790 100% .

RPAIN 1244 100% .

RPAP1 4278 100% .

RPAP2 1891 96% .

RPAP3 2194 100% .

RPE 913 100% .

RPE65 1658 100% Retinitis Pigmentosa, Autosomal Recessive

RPE65 1658 100% Leber Congenital Amaurosis

RPE65 1658 100% Retinitis Pigmentosa

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Feb 2013

Page 488


RPE65 1658 100% RPE65-Related Leber Congenital Amaurosis

RPE65 1658 100% RPE65-Related Retinitis Pigmentosa

RPF1 1086 100% .

RPF2 961 100% .

RPGR 5788 71% RPGR-Related Retinitis Pigmentosa

RPGR 5788 71% Retinitis Pigmentosa

RPGR 5788 71% Retinitis Pigmentosa, X-Linked

RPGR 5788 71% Retinitis Pigmentosa, X-linked, and Sinorespiratory Infections, with or without Deafness

RPGRIP1 3957 100% Leber Congenital Amaurosis

RPGRIP1 3957 100% RPGRIP1-Related Leber Congenital Amaurosis

RPGRIP1L 4052 96% Meckel Syndrome

RPGRIP1L 4052 96% Joubert Syndrome and Related Disorders

RPGRIP1L 4052 96% RPGRIP1L-Related Joubert Syndrome

RPGRIP1L 4052 96% RPGRIP1L-Related Meckel Syndrome

RPGRIP1L 4052 96% Nephronophthisis 8

RPH3A 2165 99% .

RPH3AL 980 84% .

RPIA 972 96% Ribose 5-Phosphate Isomerase Deficiency

RPL10 669 100% Autism Spectrum Disorders

RPL10A 678 100% .

RPL10L 649 100% .

RPL11 716 100% Diamond-Blackfan Anemia

RPL11 716 100% RPL11-Related Diamond-Blackfan Anemia

RPL12 526 89% .

RPL13 1336 97% .

RPL13A 644 99% .

RPL14 679 100% .

RPL15 937 100% .

RPL17 718 100% .

RPL17-C18ORF32 858 100% .

RPL18 595 99% .

RPL18A 551 96% .

RPL19 615 99% .

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Page 489


RPL21 503 100% .

RPL22 403 97% .

RPL22L1 385 100% .

RPL23 443 100% .

RPL23A 491 94% .

RPL24 498 100% .

RPL26 450 100% .

RPL26L1 450 100% .

RPL27 427 100% .

RPL27A 467 100% .

RPL28 1334 81% .

RPL29 492 100% .

RPL3 1583 100% .

RPL30 364 100% .

RPL31 596 100% .

RPL32 420 100% .

RPL34 370 100% .

RPL35 388 100% .

RPL35A 349 100% Diamond-Blackfan Anemia

RPL35A 349 100% RPL35A-Related Diamond-Blackfan Anemia

RPL36 330 83% .

RPL36A 413 100% .

RPL36A-HNRNPH2 1670 100% .

RPL36AL 325 100% .

RPL37 310 100% .

RPL37A 295 100% .

RPL38 229 100% .

RPL39 168 98% .

RPL39L 160 100% .

RPL3L 1264 92% .

RPL4 1324 100% .

RPL41 90 100% .

RPL5 926 100% Diamond-Blackfan Anemia

UCLA Health System




Feb 2013

Page 490


RPL5 926 100% RPL5-Related Diamond-Blackfan Anemia

RPL6 891 100% .

RPL7 771 100% .

RPL7A 833 100% .

RPL7L1 765 100% .

RPL8 794 100% .

RPL9 603 100% .

RPLP0 982 100% .

RPLP1 361 85% .

RPLP2 364 100% .

RPN1 1864 86% .

RPN2 2261 89% .

RPP14 395 100% .

RPP21 866 98% .

RPP25 604 58% .

RPP30 1146 91% .

RPP38 856 100% .

RPP40 1124 100% .

RPRD1A 967 99% .

RPRD1B 1009 100% .

RPRD2 4430 100% .

RPRM 334 100% .

RPRML 367 79% .

RPS10 518 100% Diamond-Blackfan Anemia

RPS10 518 100% RPS10-Related Diamond-Blackfan Anemia

RPS10-NUDT3 908 100% .

RPS11 497 100% .

RPS12 419 100% .

RPS13 480 100% .

RPS14 472 100% .

RPS15 454 82% .

RPS15A 409 100% .

RPS16 461 100% .

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Feb 2013

Page 491




RPS17L 856 0% .

RPS18 483 99% .



RPS19BP1 427 88% .

RPS2 906 100% .

RPS20 663 84% .

RPS21 272 100% .

RPS23 448 100% .



RPS25 394 100% .



RPS27 271 100% .

RPS27A 491 99% .

RPS27L 271 100% .

RPS28 222 76% .

RPS29 229 100% .

RPS3 756 100% .

RPS3A 819 100% .

RPS4X 820 100% .

RPS4Y1 820 100% .

RPS4Y2 820 100% .

RPS5 635 100% .

RPS6 774 100% .

RPS6KA1 2435 95% .

RPS6KA2 2417 96% .

RPS6KA3 2311 97% Coffin-Lowry Syndrome

RPS6KA3 2311 97% X-Linked Mental Retardation 19

RPS6KA3 2311 97% Choriodal Dystrophy, Central Areolar 2

UCLA Health System




Feb 2013

Page 492


RPS6KA4 2525 76% .

RPS6KA5 2664 100% .

RPS6KA6 2326 100% .

RPS6KB1 1638 97% .

RPS6KB2 1509 99% .

RPS6KC1 3261 100% .

RPS6KL1 1589 91% .



RPS8 651 100% .

RPS9 601 100% .

RPSA 912 100% .

RPTN 2363 100% .

RPTOR 4144 95% .

RPUSD1 959 91% .

RPUSD2 1650 97% .

RPUSD3 1092 96% .

RPUSD4 1409 100% .

RQCD1 932 100% .

RRAD 943 79% .

RRAGA 946 100% .

RRAGB 1169 99% .

RRAGC 1228 81% .

RRAGD 1231 90% .

RRAS 681 92% .

RRAS2 753 94% .

RRBP1 3030 99% .

RREB1 5269 90% .

RRH 1042 100% .

RRM1 2455 99% .

RRM2 1673 75% .

RRM2B 1680 89% RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy

RRM2B 1680 89% Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form

UCLA Health System




Feb 2013

Page 493


RRM2B 1680 89% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 5

RRN3 2028 100% .

RRNAD1 1586 99% .

RRP1 1438 74% .

RRP12 4030 96% .

RRP15 869 100% .

RRP1B 2341 91% .

RRP36 808 86% .

RRP7A 871 90% .

RRP8 1399 98% .

RRP9 1488 99% .

RRS1 1102 87% .

RS1 699 100% X-Linked Juvenile Retinoschisis

RS1 699 100% Choriodal Dystrophy, Central Areolar 2

RSAD1 1365 90% .

RSAD2 1110 100% .

RSBN1 2437 100% .

RSBN1L 2573 97% .

RSC1A1 1858 100% .

RSF1 4390 96% .

RSG1 797 88% .

RSL1D1 1509 100% .

RSL24D1 516 100% .

RSPH1 966 100% .

RSPH10B 5378 56% .

RSPH10B2 5378 56% .

RSPH3 1715 100% .

RSPH4A 2414 100% Primary Ciliary Dyskinesia

RSPH4A 2414 100% Primary Ciliary Dyskinesia11: RSPH4A-Related Primary Ciliary Dyskinesia

RSPH6A 2178 100% .

RSPH9 1327 100% Primary Ciliary Dyskinesia

RSPH9 1327 100% Primary Ciliary Dyskinesia12: RSPH9-Related Primary Ciliary Dyskinesia

RSPO1 812 100% .

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Feb 2013

Page 494


RSPO2 752 100% .

RSPO3 839 100% .

RSPO4 725 75% Anonychia Congenita

RSPRY1 1787 100% .

RSRC1 1041 100% .

RSRC2 1345 100% .

RSU1 921 100% .

RTBDN 1005 87% .

RTCD1 1188 100% .

RTDR1 1071 90% .

RTEL1 4125 96% .

RTF1 2205 90% .

RTKN 2020 99% .

RTKN2 1878 97% .

RTL1 4081 67% .

RTN1 2432 82% .

RTN2 1905 95% Spastic Paraplegia 12

RTN3 3333 100% .

RTN4 6057 96% .

RTN4IP1 1227 100% .

RTN4R 1430 93% .

RTN4RL1 1334 99% .

RTN4RL2 1275 90% .

RTP1 800 100% .

RTP2 686 100% .

RTP3 707 100% .

RTP4 749 100% .

RTTN 6877 100% .

RUFY1 2377 89% .

RUFY2 2119 100% .

RUFY3 2484 85% .

RUFY4 1760 98% .

RUNDC1 1862 76% .

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Feb 2013

Page 495


RUNDC3A 1562 78% .

RUNDC3B 1470 98% .

RUNX1 1798 75% Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia

RUNX1T1 2317 87% .

RUNX2 1999 96% Cleidocranial Dysplasia

RUNX2 1999 96% Choriodal Dystrophy, Central Areolar 2

RUNX3 1616 82% .

RUSC1 3536 95% .

RUSC1-AS1 715 99% .

RUSC2 4595 100% .

RUVBL1 1415 100% .

RUVBL2 1452 97% .

RWDD1 908 100% .

RWDD2A 887 100% .

RWDD2B 980 99% .

RWDD3 1969 97% .

RWDD4 595 99% .

RXFP1 2642 100% .

RXFP2 2337 100% .

RXFP3 1414 98% .

RXFP4 1129 100% .

RXRA 1429 98% .

RXRB 1642 82% .

RXRG 1432 100% .

RYBP 673 100% .

RYK 2030 88% .

RYR1 15541 91% Multiminicore Disease

RYR1 15541 91% Malignant Hyperthermia Susceptibility

RYR1 15541 91% Central Core Disease

RYR1 15541 91% RYR1-Related Malignant Hyperthermia Susceptibility

RYR1 15541 91% RYR1-Related Multiminicore Disease

RYR1 15541 91% Congenital Neuromuscular Disease with Uniform Type 1 Fiber

RYR1 15541 91% Choriodal Dystrophy, Central Areolar 2

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Feb 2013

Page 496


RYR2 15324 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

RYR2 15324 100% Catecholaminergic Polymorphic Ventricular Tachycardia

RYR2 15324 100% RYR2-Related Catecholaminergic Polymorphic Ventricular Tachycardia

RYR2 15324 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2

RYR2 15324 100% Catecholaminergic Polymorphic Ventricular Tachycardia 1, With or Without Atrial Dysfunction and Dilated Cardiomyopathy

RYR2 15324 100% Choriodal Dystrophy, Central Areolar 2

RYR3 15029 100% .

S100A1 293 100% .

S100A10 302 100% .

S100A11 330 100% .

S100A12 287 100% .

S100A13 305 100% .

S100A14 327 100% .

S100A16 320 100% .

S100A2 302 100% .

S100A3 314 100% .

S100A4 314 100% .

S100A5 287 100% .

S100A6 281 100% .

S100A7 314 100% .

S100A7A 314 100% .

S100A7L2 351 94% .

S100A8 290 100% .

S100A9 353 100% .

S100B 287 100% .

S100G 248 100% .

S100P 296 100% .

S100PBP 1247 100% .

S100Z 308 100% .

S1PR1 1153 100% .

S1PR2 1066 100% .

S1PR3 1141 100% .

S1PR4 1159 86% .

UCLA Health System




Feb 2013

Page 497


S1PR5 1201 96% .

SAA1 381 100% .

SAA2 407 94% .

SAA2-SAA4 643 100% .

SAA4 405 100% .

SAAL1 1473 100% .

SAC3D1 1085 47% .

SACM1L 1844 98% .

SACS 13776 99% ARSACS

SACS 13776 99% Choriodal Dystrophy, Central Areolar 2

SAE1 1396 93% .

SAFB 3229 79% .

SAFB2 2946 79% .

SAG 1278 100% Retinitis Pigmentosa, Autosomal Recessive

SAG 1278 100% Retinitis Pigmentosa

SAG 1278 100% Oguchi Disease 1

SAG 1278 100% SAG-Related Retinitis Pigmentosa

SAG 1278 100% Choriodal Dystrophy, Central Areolar 2

SAGE1 2791 100% .

SALL1 7453 100% Townes-Brocks Syndrome

SALL2 3032 100% .

SALL3 3915 84% .

SALL4 3178 100% Duane-Radial Ray Syndrome

SALL4 3178 100% Acro-Renal-Ocular Syndrome

SALL4 3178 100% SALL4-Related Disorders

SALL4 3178 100% Choriodal Dystrophy, Central Areolar 2

SAMD1 1319 51% .

SAMD10 629 85% .

SAMD11 2098 64% .

SAMD12 937 100% .

SAMD13 456 100% .

SAMD14 1378 85% .

SAMD15 2037 100% .

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Feb 2013

Page 498


SAMD3 1619 99% .

SAMD4A 2652 94% .

SAMD4B 2133 100% .

SAMD5 530 96% .

SAMD7 1369 100% .

SAMD8 1499 100% .

SAMD9 4774 100% .

SAMD9L 4759 100% .

SAMHD1 1945 100% Aicardi-Goutieres Syndrome

SAMHD1 1945 100% SAMHD1-Related Aicardi-Goutieres Syndrome

SAMM50 1470 99% .

SAMSN1 1154 100% .

SAP130 3336 99% .

SAP18 535 100% .

SAP25 616 48% .

SAP30 679 97% .

SAP30BP 971 100% .

SAP30L 671 99% .

SAPCD1 557 92% .

SAR1A 621 100% .

SAR1B 621 100% .

SARDH 2837 90% Sarcosinemia

SARM1 2681 62% .

SARNP 677 100% .

SARS 1589 100% .

SARS2 1847 93% Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis

SART1 2483 85% .

SART3 2968 100% .

SASH1 3824 99% .

SASH3 1175 97% .

SASS6 2042 100% .

SAT1 540 100% .

SAT2 537 100% .

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Feb 2013

Page 499


SATB1 2432 97% .

SATB2 2242 93% .

SATL1 1919 99% .

SAV1 1172 100% .

SAYSD1 560 100% .

SBDS 773 100% Shwachman-Diamond Syndrome

SBDS 773 100% Choriodal Dystrophy, Central Areolar 2

SBF1 5846 92% .

SBF2 5710 99% Charcot-Marie-Tooth Neuropathy Type 4

SBF2 5710 99% Charcot-Marie-Tooth Neuropathy Type 4B2

SBK1 1287 75% .

SBK2 1059 61% .

SBNO1 4623 100% .

SBNO2 4337 67% .

SBSN 5073 83% .

SC5DL 916 100% Lathosterolosis

SCAF1 3979 70% .

SCAF11 4448 100% .

SCAF4 3720 100% .

SCAF8 3896 100% .

SCAI 1966 97% .

SCAMP1 1052 100% .

SCAMP2 1026 93% .

SCAMP3 1080 99% .

SCAMP4 714 100% .

SCAMP5 732 100% .

SCAND1 1088 52% .

SCAND3 3994 100% .

SCAP 3928 94% .

SCAPER 4365 99% .

SCARA3 1881 89% .

SCARA5 1520 85% .

SCARB1 1702 91% .

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Feb 2013

Page 500


SCARB2 1485 100% .

SCARF1 3775 84% .

SCARF2 2792 62% .

SCCPDH 1338 87% .

SCD 1104 100% .

SCD5 1219 100% .

SCEL 2195 100% .

SCFD1 2122 97% .

SCFD2 2091 100% .

SCG2 1858 100% .

SCG3 1637 100% .

SCG5 776 100% .

SCGB1A1 288 100% .

SCGB1C1 300 100% .

SCGB1D1 285 100% .

SCGB1D2 285 100% .

SCGB1D4 264 100% .

SCGB2A1 300 100% .

SCGB2A2 294 100% .

SCGB2B2 303 85% .

SCGB3A1 327 71% .

SCGB3A2 294 100% .

SCGN 875 100% .

SCHIP1 2230 68% .

SCIMP 458 100% .

SCIN 2309 96% .

SCLT1 2151 100% .

SCLY 1386 93% .

SCMH1 2402 100% .

SCML1 1513 100% .

SCML2 2159 100% .

SCML4 1273 100% .

SCN10A 5979 100% .

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SCN11A 5480 100% .

SCN1A 6904 100% Familial Hemiplegic Migraine

SCN1A 6904 100% SCN1A-Related Seizure Disorders

SCN1A 6904 100% Familial Hemiplegic Migraine 3

SCN1B 1640 79% Brugada Syndrome

SCN1B 1640 79% SCN1B-Related Generalized Epilepsy with Febrile Seizures Plus

SCN1B 1640 79% Brugada Syndrome 5

SCN1B 1640 79% SCN1B-Related Cardiac Conduction Defect, Nonspecific

SCN1B 1640 79% Choriodal Dystrophy, Central Areolar 2

SCN2A 6218 100% Benign Familial Neonatal Infantile Seizures

SCN2A 6218 100% SCN2A-Related Generalized Epilepsy with Febrile Seizures Plus

SCN2A 6218 100% Epileptic Encephalopathy, Early Infantile, 11

SCN2B 664 100% .

SCN3A 6555 100% .

SCN3B 668 100% Brugada Syndrome

SCN3B 668 100% Brugada Syndrome 7

SCN4A 5607 100% Hyperkalemic Periodic Paralysis Type 1

SCN4A 5607 100% Hypokalemic Periodic Paralysis

SCN4A 5607 100% Paramyotonia Congenita of Von Eulenburg

SCN4A 5607 100% Hypokalemic Periodic Paralysis Type 2

SCN4A 5607 100% Congenital Myasthenic Syndromes

SCN4A 5607 100% SCN4A-Related Congenital Myasthenic Syndrome

SCN4A 5607 100% Myotonia, Potassium-Aggravated

SCN4A 5607 100% Normokalemic Periodic Paralysis, Potassium-Sensitive

SCN4A 5607 100% Choriodal Dystrophy, Central Areolar 2

SCN4B 940 100% Romano-Ward Syndrome

SCN4B 940 100% Long QT Syndrome 10

SCN5A 6696 100% Romano-Ward Syndrome

SCN5A 6696 100% Dilated Cardiomyopathy

SCN5A 6696 100% Brugada Syndrome

SCN5A 6696 100% Long QT Syndrome 3

SCN5A 6696 100% Progressive Familial Heart Block, Type IA

SCN5A 6696 100% SCN5A-Related Disorders

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Feb 2013

Page 502


SCN5A 6696 100% SCN5A-Related Romano Ward Syndrome

SCN5A 6696 100% SCN5A-Associated Dilated Cardiomyopathy

SCN5A 6696 100% SCN5A-Related Dilated Cardiomyopathy

SCN5A 6696 100% Progressive Familial Heart Block, Type IA (319080)

SCN5A 6696 100% Sick Sinus Syndrome 1, Autosomal Recessive

SCN5A 6696 100% Paroxysmal Familial Ventricular Fibrillation 1

SCN5A 6696 100% Brugada Syndrome 1

SCN5A 6696 100% SCN5A-Related Brugada Syndrome

SCN7A 5145 100% .

SCN8A 6047 100% .

SCN9A 6038 100% SCN9A-Related Inherited Erythromelalgia

SCN9A 6038 100% Congenital Indifference to Pain, Autosomal Recessive

SCN9A 6038 100% Paroxysmal Extreme Pain Disorder

SCN9A 6038 100% SCN9A-Related Generalized Epilepsy with Febrile Seizures Plus

SCN9A 6038 100% SCN9A-Related Dravet Syndrome

SCN9A 6038 100% Small Fiber Neuropathy

SCN9A 6038 100% Familial Febrile Seizures 3B

SCNM1 796 100% .

SCNN1A 3448 99% Pseudohypoaldosteronism Type 1, Recessive

SCNN1A 3448 99% Choriodal Dystrophy, Central Areolar 2

SCNN1B 1971 100% Pseudohypoaldosteronism Type 1, Recessive

SCNN1B 1971 100% Liddle Syndrome, SCNN1B-Related

SCNN1B 1971 100% Non-Classic Cystic Fibrosis-Like Syndrome

SCNN1B 1971 100% Choriodal Dystrophy, Central Areolar 2

SCNN1D 2175 79% .

SCNN1G 1998 100% Pseudohypoaldosteronism Type 1, Recessive

SCNN1G 1998 100% Liddle Syndrome, SCNN1G-Related

SCNN1G 1998 100% Choriodal Dystrophy, Central Areolar 2

SCO1 930 95% Leigh Syndrome (nuclear DNA mutation)

SCO1 930 95% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)

SCO2 805 100% Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency

SCO2 805 100% Leigh Syndrome (nuclear DNA mutation)

SCO2 805 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)

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Feb 2013

Page 503


SCO2 805 100% Choriodal Dystrophy, Central Areolar 2

SCOC 658 72% .

SCP2 2217 97% .

SCPEP1 1411 97% .

SCRG1 305 100% .

SCRIB 5116 79% .

SCRN1 1687 100% .

SCRN2 1527 100% .

SCRN3 1531 100% .

SCRT1 1055 57% .

SCRT2 932 61% .

SCT 382 28% .

SCTR 1375 94% .

SCUBE1 3055 90% .

SCUBE2 3179 93% .

SCUBE3 3070 97% .

SCXA 1228 2% .

SCXB 1228 2% .

SCYL1 2646 89% .

SCYL2 2858 100% .

SCYL3 2281 100% .

SDAD1 2152 100% .

SDC1 953 93% .

SDC2 626 90% .

SDC3 1349 89% .

SDC4 617 93% .

SDCBP 1150 100% .

SDCBP2 1074 85% .

SDCCAG3 1348 93% .

SDCCAG8 2228 100% Bardet-Biedl Syndrome

SDCCAG8 2228 100% Senior-Loken Syndrome

SDCCAG8 2228 100% Senior-Loken Syndrome 7

SDCCAG8 2228 100% SDCCAG8-Related Bardet-Biedl Syndrome

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Feb 2013

Page 504


SDF2 648 100% .

SDF2L1 678 48% .

SDF4 1526 100% .

SDHA 2055 97% Hereditary Paraganglioma-Pheochromocytoma Syndromes

SDHA 2055 97% Leigh Syndrome (nuclear DNA mutation)

SDHA 2055 97% Mitochondrial Respiratory Chain Complex II Deficiency, SDHA-Related

SDHA 2055 97% Mitochondrial Respiratory Chain Complex II Deficiency

SDHA 2055 97% SDHA-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

SDHA 2055 97% Choriodal Dystrophy, Central Areolar 2

SDHAF1 352 37% Mitochondrial Respiratory Chain Complex II Deficiency, SDHAF1-Related

SDHAF1 352 37% Mitochondrial Respiratory Chain Complex II Deficiency

SDHAF2 517 100% Hereditary Paraganglioma-Pheochromocytoma Syndromes

SDHAF2 517 100% SDHAF2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

SDHB 875 99% Hereditary Paraganglioma-Pheochromocytoma Syndromes

SDHB 875 99% SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

SDHB 875 99% SDHB-Related Paraganglioma and Gastric Stromal Sarcoma

SDHC 857 100% Hereditary Paraganglioma-Pheochromocytoma Syndromes

SDHC 857 100% SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

SDHC 857 100% SDHC-Related Paraganglioma and Gastric Stromal Sarcoma

SDHD 496 100% Hereditary Paraganglioma-Pheochromocytoma Syndromes

SDHD 496 100% SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

SDHD 496 100% SDHD-Related Paraganglioma and Gastric Stromal Sarcoma

SDK1 7293 95% .

SDK2 6699 95% .

SDPR 1286 100% .

SDR16C5 954 100% .

SDR39U1 906 100% .

SDR42E1 1190 100% .

SDR9C7 958 100% .

SDS 1015 95% .

SDSL 1018 98% .

SEBOX 663 100% .

SEC11A 564 100% .

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Feb 2013

Page 505


SEC11C 603 99% .

SEC13 1054 100% .

SEC14L1 2492 100% .

SEC14L2 1630 96% .

SEC14L3 1251 100% .

SEC14L4 1275 97% .

SEC14L5 2151 94% .

SEC14L6 1242 94% .

SEC16A 7194 96% .

SEC16B 3283 98% .

SEC22A 948 100% .

SEC22B 668 99% .

SEC22C 982 100% .

SEC23A 2374 100% .

SEC23B 2621 100% Congenital Dyserythropoietic Anemia Type II

SEC23IP 3075 100% .

SEC24A 3374 100% .

SEC24B 3903 96% .

SEC24C 3373 100% .

SEC24D 3187 100% .

SEC31A 4181 98% .

SEC31B 3640 100% .

SEC61A1 1479 100% .

SEC61A2 1553 99% .

SEC61B 307 89% .

SEC61G 219 100% .

SEC62 1232 97% .

SEC63 2367 100% Polycystic Liver Disease

SECISBP2 2633 98% .

SECISBP2L 3378 99% .

SECTM1 763 99% .

SEH1L 1319 100% .

SEL1L 2533 100% .

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Feb 2013

Page 506


SEL1L2 2147 100% .

SEL1L3 3495 95% .

SELE 1881 100% .

SELENBP1 1467 98% .

SELK 305 100% .

SELL 1194 100% .

SELM 458 72% .

SELO 2046 72% .

SELP 2557 100% .

SELPLG 2434 99% .

SELRC1 708 100% .

SELS 594 94% .

SELT 608 100% .

SELV 1061 58% .

SEMA3A 2384 100% .

SEMA3B 2466 83% .

SEMA3C 2324 100% .

SEMA3D 2402 100% .

SEMA3E 2561 100% .

SEMA3F 2430 97% .

SEMA3G 2413 94% .

SEMA4A 2507 99% Retinitis Pigmentosa, Autosomal Dominant

SEMA4A 2507 99% Retinitis Pigmentosa

SEMA4A 2507 99% SEMA4A-Related Retinitis Pigmentosa

SEMA4A 2507 99% Cone-Rod Dystrophy 10

SEMA4B 2570 95% .

SEMA4C 2558 99% .

SEMA4D 3215 94% .

SEMA4F 2369 98% .

SEMA4G 2689 96% .

SEMA5A 3309 100% .

SEMA5B 4055 89% .

SEMA6A 3165 100% .

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Feb 2013

Page 507


SEMA6B 2731 65% .

SEMA6C 2961 78% .

SEMA6D 5089 100% .

SEMA7A 2146 92% .

SEMG1 1397 100% .

SEMG2 1757 100% .

SENP1 2000 100% .

SENP2 1838 100% .

SENP3 1849 99% .

SENP5 2304 100% .

SENP6 3435 98% .

SENP7 3249 100% .

SENP8 643 100% .

SEPHS1 1319 100% .

SEPHS2 1351 85% .

SEPN1 1825 80% Multiminicore Disease

SEPN1 1825 80% SEPN1-Related Myopathy

SEPN1 1825 80% Congenital Muscular Dystrophy

SEPN1 1825 80% Congenital Fiber-Type Disproportion

SEPN1 1825 80% SEPN1-Related Congenital Fiber-Type Disproportion

SEPN1 1825 80% SEPN1-Related Multiminicore Disease

SEPN1 1825 80% SEPN1-Related myopathy (319480)

SEPN1 1825 80% Choriodal Dystrophy, Central Areolar 2

SEPP1 1476 95% .

SEPSECS 1550 94% .

SEPW1 284 95% .

SEPX1 367 84% .

SERAC1 2029 100% .

SERBP1 1480 100% .

SERF1A 844 16% .

SERF1B 844 16% .

SERF2 441 100% .

SERGEF 1421 96% .

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Feb 2013

Page 508


SERHL2 993 70% .

SERINC1 1402 100% .

SERINC2 1703 92% .

SERINC3 1462 99% .

SERINC4 857 100% .

SERINC5 1510 83% .

SERP1 213 100% .

SERP2 210 100% .

SERPINA1 1273 100% Alpha1-Antitrypsin Deficiency

SERPINA1 1273 100% Choriodal Dystrophy, Central Areolar 2

SERPINA10 1351 100% .

SERPINA11 1285 100% .

SERPINA12 1261 100% .

SERPINA3 1288 100% .

SERPINA4 1300 100% .

SERPINA5 1237 100% .

SERPINA6 1234 100% .

SERPINA7 1264 100% .

SERPINA9 2626 100% .

SERPINB1 1164 100% .

SERPINB10 1222 100% .

SERPINB11 1207 100% .

SERPINB12 1246 100% .

SERPINB13 1204 100% .

SERPINB2 1276 100% .

SERPINB3 1201 100% .

SERPINB4 1201 100% .

SERPINB5 1152 100% .

SERPINB6 1155 100% .

SERPINB7 1171 100% .

SERPINB8 1162 100% .

SERPINB9 1155 100% .

SERPINC1 1423 100% Antithrombin-III Deficiency

UCLA Health System




Feb 2013

Page 509


SERPIND1 1516 100% .

SERPINE1 1791 100% Plasminogen Activator Inhibitor-1 Deficiency

SERPINE1 1791 100% Choriodal Dystrophy, Central Areolar 2

SERPINE2 1648 99% .

SERPINE3 1303 100% .

SERPINF1 1285 93% SERPINF1-Related Osteogenesis Imperfecta

SERPINF1 1285 93% Osteogenesis Imperfecta Type XII

SERPINF2 1599 100% .

SERPING1 1531 96% Hereditary Angioedema

SERPING1 1531 96% Choriodal Dystrophy, Central Areolar 2

SERPINH1 1273 100% SERPINH1-Related Osteogenesis Imperfecta

SERPINH1 1273 100% Osteogenesis Imperfecta Type X

SERPINI1 1265 100% Familial Encephalopathy with Neuroserpin Inclusion Bodies

SERPINI1 1265 100% Choriodal Dystrophy, Central Areolar 2

SERPINI2 1250 100% .

SERTAD1 715 93% .

SERTAD2 949 100% .

SERTAD3 595 100% .

SERTAD4 1083 100% .

SERTM1 328 100% .

SESN1 1901 100% .

SESN2 1483 91% .

SESN3 1519 100% .

SESTD1 2159 100% .

SET 982 93% .

SETBP1 5004 96% Schinzel-Giedion Midface Retraction Syndrome

SETD1A 5196 94% .

SETD1B 5840 34% .

SETD2 7779 99% .

SETD3 1879 100% .

SETD4 1588 100% .

SETD5 4413 100% .

SETD6 2076 55% .

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Feb 2013

Page 510


SETD7 1133 100% .

SETD8 1091 88% .

SETDB1 4277 100% .

SETDB2 2216 100% .

SETMAR 3803 78% .

SETX 8130 100% Ataxia with Oculomotor Apraxia 2

SETX 8130 100% Amyotrophic Lateral Sclerosis

SETX 8130 100% SETX-Related Amyotrophic Lateral Sclerosis

SEZ6 3116 98% .

SEZ6L 3381 97% .

SEZ6L2 3148 95% .

SF1 3786 73% .

SF3A1 2920 92% .

SF3A2 1427 66% .

SF3A3 1574 98% .

SF3B1 4039 100% .

SF3B14 394 100% .

SF3B2 2776 100% .

SF3B3 3754 100% .

SF3B4 1299 95% .

SF3B5 265 100% .

SFI1 3857 96% .

SFMBT1 2681 100% .

SFMBT2 2765 98% .

SFN 751 100% .

SFPQ 2164 70% .

SFR1 880 98% .

SFRP1 957 98% .

SFRP2 900 100% .

SFRP4 1065 100% .

SFRP5 966 97% .

SFSWAP 2928 98% .

SFT2D1 512 89% .

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Feb 2013

Page 511


SFT2D2 515 87% .

SFT2D3 652 2% .

SFTA2 249 100% .

SFTA3 301 100% .

SFTPA1 1533 100% .

SFTPA2 763 100% .

SFTPB 1222 87% Pulmonary Surfactant Metabolism Dysfunction

SFTPB 1222 87% SFTPB-Related Pulmonary Surfactant Metabolism Dysfunction

SFTPB 1222 87% Choriodal Dystrophy, Central Areolar 2

SFTPC 777 100% Familial Pulmonary Fibrosis

SFTPC 777 100% Surfactant Protein C Deficiency

SFTPC 777 100% Pulmonary Surfactant Metabolism Dysfunction

SFTPC 777 100% SFTPC-Related Pulmonary Surfactant Metabolism Dysfunction

SFTPC 777 100% SFTPC-Related Familial Pulmonary Fibrosis

SFTPD 1156 100% .

SFXN1 1009 100% .

SFXN2 1013 100% .

SFXN3 1022 99% .

SFXN4 1070 100% .

SFXN5 1079 94% .

SGCA 1200 88% Limb-Girdle Muscular Dystrophies, Autosomal Recessive

SGCA 1200 88% Alpha-Sarcoglycanopathy

SGCB 981 96% Limb-Girdle Muscular Dystrophies, Autosomal Recessive

SGCB 981 96% Beta-Sarcoglycanopathy

SGCD 1177 100% Dilated Cardiomyopathy

SGCD 1177 100% Limb-Girdle Muscular Dystrophies, Autosomal Recessive

SGCD 1177 100% Delta-Sarcoglycanopathy

SGCD 1177 100% SGCD-Related Dilated Cardiomyopathy

SGCD 1177 100% Choriodal Dystrophy, Central Areolar 2

SGCE 1565 95% Myoclonus-Dystonia

SGCE 1565 95% Choriodal Dystrophy, Central Areolar 2

SGCG 904 100% Limb-Girdle Muscular Dystrophies, Autosomal Recessive

SGCG 904 100% Gamma-Sarcoglycanopathy

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Feb 2013

Page 512


SGCZ 971 99% .

SGIP1 2587 100% .

SGK1 2003 97% .

SGK196 1061 100% .

SGK2 1552 94% .

SGK223 4229 99% .

SGK3 1555 100% .

SGK494 1281 73% .

SGMS1 1262 100% .

SGMS2 1118 100% .

SGOL1 2665 100% .

SGOL2 4013 100% .

SGPL1 1763 100% .

SGPP1 1338 86% .

SGPP2 1220 82% .

SGSH 1541 82% Mucopolysaccharidosis Type IIIA

SGSH 1541 82% Choriodal Dystrophy, Central Areolar 2

SGSM1 3551 98% .

SGSM2 3252 98% .

SGSM3 2334 99% .

SGTA 982 86% .

SGTB 955 100% .

SH2B1 3445 91% .

SH2B2 1796 59% .

SH2B3 1756 73% .

SH2D1A 552 100% SH2D1A-Related Lymphoproliferative Disease, X-Linked

SH2D1A 552 100% Lymphoproliferative Disease, X-Linked

SH2D1A 552 100% Choriodal Dystrophy, Central Areolar 2

SH2D1B 415 100% .

SH2D2A 1580 89% .

SH2D3A 1767 82% .

SH2D3C 3308 90% .

SH2D4A 1451 97% .

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Feb 2013

Page 513


SH2D4B 1278 81% .

SH2D5 1459 92% .

SH2D6 544 86% .

SH2D7 1380 100% .

SH3BGR 934 100% .

SH3BGRL 361 100% .

SH3BGRL2 340 93% .

SH3BGRL3 294 87% .

SH3BP1 2178 77% .

SH3BP2 2137 85% Cherubism

SH3BP2 2137 85% Choriodal Dystrophy, Central Areolar 2

SH3BP4 2908 96% .

SH3BP5 1573 92% .

SH3BP5L 1206 95% .

SH3D19 2433 100% .

SH3D21 2458 89% .

SH3GL1 1433 100% .

SH3GL2 1095 99% .

SH3GL3 1080 99% .

SH3GLB1 1267 99% .

SH3GLB2 1232 80% .

SH3KBP1 2141 100% .

SH3PXD2A 3374 96% .

SH3PXD2B 2788 100% Frank-ter Haar Syndrome

SH3RF1 2711 100% .

SH3RF2 2226 100% .

SH3RF3 2689 69% .

SH3TC1 4079 91% .

SH3TC2 3935 100% Charcot-Marie-Tooth Neuropathy Type 4

SH3TC2 3935 100% Charcot-Marie-Tooth Neuropathy Type 4C

SH3YL1 1069 100% .

SHANK1 6578 59% .

SHANK2 5712 90% Autism Spectrum Disorders

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Feb 2013

Page 514


SHANK3 5336 57% Phelan-McDermid Syndrome

SHANK3 5336 57% Autism Spectrum Disorders

SHARPIN 1196 83% .

SHB 1554 70% .

SHBG 1558 100% .

SHC1 2940 100% .

SHC2 1797 68% .

SHC3 1833 87% .

SHC4 1941 100% .

SHCBP1 2071 100% .

SHCBP1L 2002 95% .

SHD 1047 99% .

SHE 1512 84% .

SHF 1300 95% .

SHFM1 225 100% .

SHH 1401 74% SHH-Related Holoprosencephaly

SHH 1401 74% Holoprosencephaly

SHISA2 896 67% .

SHISA3 725 89% .

SHISA4 614 87% .

SHISA5 747 87% .

SHISA6 1680 91% .

SHISA7 1633 17% .

SHISA9 1402 84% .

SHKBP1 2196 95% .

SHMT1 1496 100% .

SHMT2 1892 100% .

SHOC2 1781 100% Noonan-Like Syndrome with Loose Anagen Hair

SHOX 1896 34% Leri-Weill Dyschondrosteosis

SHOX 1896 34% SHOX-Related Short Stature

SHOX 1896 34% Langer Mesomelic Dwarfism

SHOX 1896 34% SHOX-Related Haploinsufficiency Disorders

SHOX 1896 34% Choriodal Dystrophy, Central Areolar 2

UCLA Health System




Feb 2013

Page 515


SHOX2 1390 88% .

SHPK 1465 99% .

SHPRH 5543 100% .

SHQ1 1778 96% .

SHROOM1 2924 81% .

SHROOM2 4891 86% .

SHROOM3 6035 93% .

SHROOM4 4518 98% Stocco dos Santos X-Linked Mental Retardation Syndrome

SI 5672 100% Congenital Sucrase-Isomaltase Deficiency

SIAE 1778 100% .

SIAH1 1805 100% .

SIAH2 983 94% .

SIAH3 818 100% .

SIDT1 2584 98% .

SIDT2 2603 100% .

SIGIRR 1269 84% .

SIGLEC1 5214 96% .

SIGLEC10 3294 100% .

SIGLEC11 2141 95% .

SIGLEC12 2351 100% .

SIGLEC14 1219 76% .

SIGLEC15 1011 57% .

SIGLEC5 1692 87% .

SIGLEC6 2515 100% .

SIGLEC7 1432 100% .

SIGLEC8 1528 100% .

SIGLEC9 1661 85% .

SIGMAR1 688 85% .

SIK1 2404 83% .

SIK2 2841 95% .

SIK3 3884 99% .

SIKE1 831 100% .

SIL1 1422 96% Marinesco-Sjogren Syndrome

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Feb 2013

Page 516


SIM1 2345 100% Prader-Willi-Like Syndrome Associated with Chromosome 6

SIM2 2735 80% .

SIN3A 3902 100% .

SIN3B 3569 93% .

SIPA1 3189 71% .

SIPA1L1 5499 100% .

SIPA1L2 5253 100% .

SIPA1L3 5426 95% .

SIRPA 1547 94% .

SIRPB1 2354 77% .

SIRPB2 1419 99% .

SIRPD 610 100% .

SIRPG 1184 94% .

SIRT1 2437 83% .

SIRT2 1439 93% .

SIRT3 1424 90% .

SIRT4 957 100% .

SIRT5 1242 99% .

SIRT6 1100 56% .

SIRT7 1243 82% .

SIT1 611 86% .

SIVA1 544 83% .

SIX1 863 100% Branchiootorenal Spectrum Disorders

SIX1 863 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

SIX1 863 100% DFNA23 Nonsyndromic Hearing Loss and Deafness

SIX1 863 100% SIX1-Related Branchiootorenal Spectrum Disorders

SIX2 884 100% .

SIX3 1007 96% Anophthalmia/Microphthalmia

SIX3 1007 96% Holoprosencephaly

SIX3 1007 96% SIX3-Related Holoprosencephaly

SIX3 1007 96% Familial Schizencephaly, SIX3-Related

SIX3 1007 96% Choriodal Dystrophy, Central Areolar 2

SIX4 2358 94% .

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Feb 2013

Page 517


SIX5 2232 54% Branchiootorenal Spectrum Disorders

SIX5 2232 54% SIX5-Related Branchiootorenal Spectrum Disorders

SIX6 749 100% Anophthalmia/Microphthalmia

SIX6 749 100% SIX6-Related Eye Disorders

SIX6 749 100% Choriodal Dystrophy, Central Areolar 2

SKA1 792 100% .

SKA2 587 100% .

SKA3 1374 96% .

SKAP1 1233 96% .

SKAP2 1128 100% .

SKI 2215 70% .

SKIL 3418 100% .

SKIV2L 3853 100% .

SKIV2L2 3237 100% .

SKOR1 2806 72% .

SKP1 711 100% .

SKP2 1639 100% .

SLA 1364 89% .

SLA2 1076 100% .

SLAIN1 1228 100% .

SLAIN2 1778 78% .

SLAMF1 1036 100% .

SLAMF6 1455 100% .

SLAMF7 1036 100% .

SLAMF8 878 100% .

SLAMF9 1445 100% .

SLBP 845 78% .

SLC10A1 1070 100% .

SLC10A2 1071 100% .

SLC10A3 4314 100% .

SLC10A4 1326 72% .

SLC10A5 1321 100% .

SLC10A6 1158 100% .

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Feb 2013

Page 518


SLC10A7 1204 100% .

SLC11A1 1713 99% .

SLC11A2 2136 99% Hypochromic Microcytic Anemia with Iron Overload

SLC12A1 3504 100% Antenatal Bartter Syndrome Type 1

SLC12A1 3504 100% Choriodal Dystrophy, Central Areolar 2

SLC12A2 3747 92% .

SLC12A3 3430 96% Gitelman Syndrome


SLC12A4 3938 96% .

SLC12A5 3580 94% .

SLC12A6 4225 100% Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

SLC12A7 3348 94% .

SLC12A8 2197 100% .

SLC12A9 2797 91% .

SLC13A1 1848 100% .

SLC13A2 2262 100% .

SLC13A3 2531 95% .

SLC13A4 1945 95% .

SLC13A5 1755 100% .

SLC14A1 1550 90% .

SLC14A2 2839 100% .

SLC15A1 2219 100% .

SLC15A2 2278 100% .

SLC15A3 1778 72% .

SLC15A4 1766 71% .

SLC15A5 1776 79% .

SLC16A1 1519 100% .

SLC16A10 1572 92% .

SLC16A11 1432 65% .

SLC16A12 1575 100% .

SLC16A13 1297 100% .

SLC16A14 1549 100% .

SLC16A2 1866 81% MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency

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Feb 2013

Page 519


SLC16A3 1414 90% .

SLC16A4 1719 100% .

SLC16A5 1538 100% .

SLC16A6 1592 100% .

SLC16A7 1453 100% .

SLC16A8 1531 44% .

SLC16A9 1550 100% .

SLC17A1 1448 100% .

SLC17A2 1351 100% .

SLC17A3 1541 100% .

SLC17A4 1538 100% .

SLC17A5 1532 99% Free Sialic Acid Storage Disorders

SLC17A5 1532 99% Salla Disease


SLC17A6 1797 100% .

SLC17A7 1731 97% .

SLC17A8 1818 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

SLC17A8 1818 100% DFNA25 Nonsyndromic Hearing Loss and Deafness

SLC17A9 1363 95% .

SLC18A1 1756 98% .

SLC18A2 1605 100% .

SLC18A3 1603 99% .

SLC19A1 1796 83% .

SLC19A2 1518 87% Thiamine-Responsive Megaloblastic Anemia Syndrome

SLC19A2 1518 87% Congenital Sideroblastic Anemia


SLC19A3 1511 100% Basal Ganglia Disease, Biotin-Responsive

SLC1A1 1623 100% Dicarboxylicaminoaciduria

SLC1A2 1913 99% .

SLC1A3 1884 100% Episodic Ataxia Type 6

SLC1A4 1802 92% .

SLC1A5 1836 85% .

SLC1A6 1731 99% .

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Feb 2013

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SLC1A7 1727 97% .

SLC20A1 2080 100% .

SLC20A2 1999 100% Familial Idiopathic Basal Ganglia Calcification

SLC20A2 1999 100% Familial Idiopathic Basal Ganglia Calcification 3

SLC22A1 1780 100% .

SLC22A10 1666 100% .

SLC22A11 1693 93% .

SLC22A12 1875 97% Renal Hypouricemia 1

SLC22A13 1696 99% .

SLC22A14 1825 97% .

SLC22A15 1692 100% .

SLC22A16 1766 97% .

SLC22A17 1929 80% .

SLC22A18 1315 77% .

SLC22A18AS 770 0% .

SLC22A2 1712 100% .

SLC22A20 1074 93% .

SLC22A23 2260 75% .

SLC22A24 1696 58% .

SLC22A25 1680 100% .

SLC22A3 1715 86% .

SLC22A4 1696 100% .

SLC22A5 1714 98% Systemic Primary Carnitine Deficiency


SLC22A6 2473 98% .

SLC22A7 1801 100% .

SLC22A8 2114 100% .

SLC22A9 1702 100% .

SLC23A1 1949 92% .

SLC23A2 2013 100% .

SLC23A3 2278 99% .

SLC24A1 3336 100% .

SLC24A2 2026 100% .

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Feb 2013

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SLC24A3 2003 93% .

SLC24A4 2199 97% .

SLC24A5 1539 100% .

SLC24A6 1815 93% .

SLC25A1 972 76% .

SLC25A10 908 87% .

SLC25A11 1076 100% .

SLC25A12 2109 100% Global Cerebral Hypomyelination

SLC25A13 2195 99% Citrullinemia Type II

SLC25A13 2195 99% Citrin Deficiency

SLC25A14 1097 100% .

SLC25A15 930 100% Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome


SLC25A16 1035 95% .

SLC25A17 960 100% .

SLC25A18 984 96% .

SLC25A19 987 100% Amish Lethal Microcephaly

SLC25A2 910 100% .

SLC25A20 942 97% Carnitine-Acylcarnitine Translocase Deficiency


SLC25A21 1011 99% .

SLC25A22 1008 84% Epileptic Encephalopathy, Early Infantile, 3

SLC25A23 1447 96% .

SLC25A24 1604 92% .

SLC25A25 2030 97% .

SLC25A26 979 80% .

SLC25A27 1008 100% .

SLC25A28 1111 86% .

SLC25A29 928 72% .

SLC25A3 1243 100% Mitochondrial Phosphate Carrier Deficiency

SLC25A30 912 100% .

SLC25A31 972 100% .

SLC25A32 976 100% .

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Feb 2013

Page 522


SLC25A33 994 94% .

SLC25A34 935 90% .

SLC25A35 953 100% .

SLC25A36 1162 96% .

SLC25A37 1033 99% .

SLC25A38 943 100% Congenital Sideroblastic Anemia

SLC25A38 943 100% Pyridoxine-Refractory Sideroblastic Anemia, Autosomal Recessive

SLC25A39 1262 93% .

SLC25A4 913 88% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 2

SLC25A40 1057 100% .

SLC25A41 1141 100% .

SLC25A42 985 96% .

SLC25A43 1046 73% .

SLC25A44 957 100% .

SLC25A45 967 100% .

SLC25A46 1289 81% .

SLC25A47 951 100% .

SLC25A48 494 91% .

SLC25A5 913 96% .

SLC25A6 1826 49% .

SLC26A1 2217 75% .

SLC26A10 1748 92% .

SLC26A11 1885 95% .

SLC26A2 2228 100% Achondrogenesis Type 1B

SLC26A2 2228 100% Diastrophic Dysplasia

SLC26A2 2228 100% Atelosteogenesis Type II

SLC26A2 2228 100% Multiple Epiphyseal Dysplasia, Recessive

SLC26A2 2228 100% Sulfate Transporter-Related Osteochondrodysplasia


SLC26A3 2375 100% Familial Chloride Diarrhea


SLC26A4 2423 94% SLC26A4-Related Pendred Syndrome

SLC26A4 2423 94% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

UCLA Health System




Feb 2013

Page 523


SLC26A4 2423 94% SLC26A4-Related Pendred Syndrome (319701)

SLC26A4 2423 94% Pendred Syndrome/DFNB4

SLC26A5 2389 100% DFNB61 Nonsyndromic Hearing Loss and Deafness

SLC26A6 3096 98% .

SLC26A7 2104 100% .

SLC26A8 2989 100% .

SLC26A9 2804 98% .

SLC27A1 1989 86% .

SLC27A2 1903 100% .

SLC27A3 2233 96% .

SLC27A4 1980 100% .

SLC27A5 2113 94% .

SLC27A6 1900 100% .

SLC28A1 2089 96% .

SLC28A2 2045 100% .

SLC28A3 2148 100% .

SLC29A1 1419 100% .

SLC29A2 1419 93% .

SLC29A3 1627 100% Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism

SLC29A4 1633 97% .

SLC2A1 1519 99% Glucose Transporter Type 1 Deficiency Syndrome

SLC2A1 1519 99% Dystonia 18

SLC2A1 1519 99% Dystonia 9


SLC2A10 1646 100% Arterial Tortuosity Syndrome

SLC2A11 1619 94% .

SLC2A12 1874 100% .

SLC2A13 1987 89% .

SLC2A14 1603 94% .

SLC2A2 1619 100% Fanconi-Bickel Syndrome

SLC2A3 1531 100% .

SLC2A4 1574 97% .

SLC2A4RG 1196 65% .

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Feb 2013

Page 524


SLC2A5 2039 96% .

SLC2A6 1564 77% .

SLC2A7 1587 89% .

SLC2A8 1474 69% .

SLC2A9 1738 90% Renal Hypouricemia 2

SLC30A1 1532 100% .

SLC30A10 1474 87% Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease

SLC30A2 1151 100% .

SLC30A3 1199 100% .

SLC30A4 1318 100% .

SLC30A5 2450 96% .

SLC30A6 1566 92% .

SLC30A7 1175 100% .

SLC30A8 1346 100% .

SLC30A9 1779 100% .

SLC31A1 589 100% .

SLC31A2 448 98% .

SLC32A1 1586 100% .

SLC33A1 1674 100% Spastic Paraplegia 42

SLC34A1 2059 96% Hypophosphatemic Nephrolithiasis/Osteoporosis, 1

SLC34A2 2263 100% .

SLC34A3 1848 81% Hereditary Hypophosphatemic Rickets with Hypercalciuria

SLC35A1 1046 98% Congenital Disorders of Glycosylation

SLC35A1 1046 98% SLC35A1-CDG (CDG-IIf)

SLC35A2 3161 81% .

SLC35A3 1006 100% .

SLC35A4 979 100% .

SLC35A5 1299 100% .

SLC35B1 1005 100% .

SLC35B2 1315 99% .

SLC35B3 1246 100% .

SLC35B4 1036 92% .

SLC35C1 1642 100% Congenital Disorders of Glycosylation

UCLA Health System




Feb 2013

Page 525


SLC35C1 1642 100% SLC35C1-CDG (CDG-IIc)

SLC35C2 1307 100% .

SLC35D1 1116 100% .

SLC35D2 1062 86% .

SLC35D3 1259 84% .

SLC35E1 1257 84% .

SLC35E2 821 71% .

SLC35E2B 1250 54% .

SLC35E3 962 100% .

SLC35E4 1061 94% .

SLC35F1 1259 98% .

SLC35F2 1157 99% .

SLC35F3 1505 97% .

SLC35F4 1383 100% .

SLC35F5 1632 98% .

SLC35G1 1295 86% .

SLC35G3 1021 100% .

SLC35G5 1021 100% .

SLC35G6 1025 100% .

SLC36A1 1471 100% .

SLC36A2 1492 100% .

SLC36A3 1580 92% .

SLC36A4 1559 98% .

SLC37A1 1678 100% .

SLC37A2 1610 99% .

SLC37A3 1936 100% .

SLC37A4 1879 100% Glycogen Storage Disease Type Ib

SLC37A4 1879 100% Glycogen Storage Disease Type I


SLC38A1 1524 100% .

SLC38A10 4104 98% .

SLC38A11 1261 100% .

SLC38A2 1581 100% .

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Feb 2013

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SLC38A3 1575 100% .

SLC38A4 1704 100% .

SLC38A5 1479 92% .

SLC38A6 1719 82% .

SLC38A7 1429 90% .

SLC38A8 1348 100% .

SLC38A9 1742 100% .

SLC39A1 987 99% .

SLC39A10 2532 100% .

SLC39A11 1214 100% .

SLC39A12 2124 100% .

SLC39A13 1277 99% Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like

SLC39A14 1803 90% .

SLC39A2 946 100% .

SLC39A3 1383 100% .

SLC39A4 2512 80% Acrodermatitis Enteropathica, Zinc-Deficiency Type

SLC39A5 1663 100% .

SLC39A6 2708 100% .

SLC39A7 1438 100% .

SLC39A8 1668 83% .

SLC39A9 1154 100% .

SLC3A1 2098 100% Cystinuria


SLC3A2 2474 75% .

SLC40A1 1748 100% SLC40A1-Related Hereditary Hemochromatosis

SLC41A1 1582 100% .

SLC41A2 1762 100% .

SLC41A3 2191 98% .

SLC43A1 1736 99% .

SLC43A2 1762 82% .

SLC43A3 1524 99% .

SLC44A1 2038 98% .

SLC44A2 2244 97% .

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Feb 2013

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SLC44A3 2169 99% .

SLC44A4 2300 100% .

SLC44A5 2363 100% .

SLC45A1 2279 100% .

SLC45A2 1867 100% Oculocutaneous Albinism Type 4

SLC45A3 1678 100% .

SLC45A4 2429 99% .

SLC46A1 1563 100% Hereditary Folate Malabsorption

SLC46A2 1444 100% .

SLC46A3 1509 100% .

SLC47A1 1781 92% .

SLC47A2 2087 100% .

SLC48A1 453 69% .

SLC4A1 2812 97% Renal Tubular Acidosis, Distal, Autosomal Dominant

SLC4A1 2812 97% Hemolytic Anemia due to Band 3 Montefiore

SLC4A1 2812 97% Spherocytosis, Type 4

SLC4A1 2812 97% Ovalocytosis, Southeast Asian

SLC4A1 2812 97% Renal Tubular Acidosis, Distal, with Hemolytic Anemia

SLC4A10 3546 98% .

SLC4A11 3115 98% Corneal Endothelial Dystrophy 2, Autosomal Recessive

SLC4A1AP 2447 100% .

SLC4A2 3855 92% .

SLC4A3 4153 96% .

SLC4A4 3948 99% Proximal Renal Tubular Acidosis with Ocular Abnormalities


SLC4A5 3518 100% .

SLC4A7 3745 100% .

SLC4A8 3632 99% .

SLC4A9 2964 94% .

SLC50A1 774 100% .

SLC5A1 2164 100% Glucose-Galactose Malabsorption

SLC5A10 2059 100% .

SLC5A11 2088 100% .

UCLA Health System




Feb 2013

Page 528


SLC5A12 1917 100% .

SLC5A2 2075 100% Renal Glucosuria

SLC5A3 2161 100% .

SLC5A4 2040 100% .

SLC5A5 1992 92% Thyroid Hormonogenesis Defect I

SLC5A6 1968 100% .

SLC5A7 1775 100% .

SLC5A8 1893 100% .

SLC5A9 2181 100% .

SLC6A1 1856 100% .

SLC6A11 1955 98% .

SLC6A12 1901 90% .

SLC6A13 2071 99% .

SLC6A14 1985 97% .

SLC6A15 2813 100% .

SLC6A16 2255 100% .

SLC6A17 2228 100% .

SLC6A18 1935 100% .

SLC6A19 1953 100% Hartnup Disease

SLC6A2 2395 100% Norepinephrine Transporter Deficiency

SLC6A20 1823 99% SLC6A20-Related Hyperglycinuria

SLC6A3 1919 94% Parkinsonism-Dystonia, Infantile

SLC6A4 1945 100% SLC6A4-Related Behavior Disorders

SLC6A5 2458 98% Hyperekplexia

SLC6A5 2458 98% SLC6A5-Related Hyperekplexia

SLC6A6 2162 100% .

SLC6A7 1967 98% .

SLC6A8 2225 95% SLC6A8-Related Creatine Transporter Deficiency

SLC6A8 2225 95% Creatine Deficiency Syndromes


SLC6A9 2211 100% .

SLC7A1 1934 100% .

SLC7A10 1616 94% .

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Feb 2013

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SLC7A11 1554 100% .

SLC7A13 1429 100% .

SLC7A14 2344 100% .

SLC7A2 2688 100% .

SLC7A3 1904 97% .

SLC7A4 1924 100% .

SLC7A5 1564 90% .

SLC7A6 1584 100% .

SLC7A6OS 950 100% .

SLC7A7 1572 100% Lysinuric Protein Intolerance


SLC7A8 1782 99% .

SLC7A9 1512 100% Cystinuria


SLC8A1 3070 100% .

SLC8A2 2802 87% .

SLC8A3 3289 100% .

SLC9A1 2496 95% .

SLC9A10 3646 100% .

SLC9A11 3483 100% .

SLC9A2 2487 99% .

SLC9A3 2573 83% .

SLC9A3R1 1101 80% .

SLC9A3R2 1205 73% .

SLC9A4 2445 100% .

SLC9A5 2755 94% .

SLC9A6 2703 98% SLC9A6-Related Syndromic Mental Retardation

SLC9A7 2246 96% .

SLC9A8 1810 98% .

SLC9A9 2002 100% .

SLC9B1 1811 100% .

SLC9B2 1658 100% .

SLCO1A2 2069 100% .

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Feb 2013

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SLCO1B1 2132 100% Rotor Syndrome

SLCO1B3 2165 100% Rotor Syndrome

SLCO1B7 1975 100% .

SLCO1C1 2887 100% .

SLCO2A1 1988 97% .

SLCO2B1 2321 100% .

SLCO3A1 2644 93% .

SLCO4A1 2213 93% .

SLCO4C1 2227 100% .

SLCO5A1 3045 100% .

SLCO6A1 2212 100% .

SLFN11 2722 99% .

SLFN12 1749 100% .

SLFN12L 1783 99% .

SLFN13 2710 100% .

SLFN14 2755 0% .

SLFN5 2692 100% .

SLFNL1 1240 94% .

SLIRP 346 100% .

SLIT1 4753 93% .

SLIT2 4738 100% .

SLIT3 4716 93% .

SLITRK1 2095 100% Tourette Syndrome

SLITRK2 2542 100% .

SLITRK3 2938 100% .

SLITRK4 2518 100% .

SLITRK5 2881 100% .

SLITRK6 2530 100% .

SLK 3784 100% .

SLMAP 2520 100% .

SLMO1 543 84% .

SLMO2 609 98% .

SLN 100 100% .

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Feb 2013

Page 531


SLPI 415 100% .

SLTM 3662 100% .

SLU7 1821 100% .

SLURP1 324 100% Mal de Meleda

SLX1A 1704 27% .

SLX1B 1704 27% .

SLX4 5561 97% Fanconi Anemia

SLX4 5561 97% SLX4-Related Fanconi Anemia

SMAD1 1422 100% .

SMAD2 1444 100% .

SMAD3 1669 94% Thoracic Aortic Aneurysms and Aortic Dissections

SMAD3 1669 94% Loeys-Dietz Syndrome

SMAD3 1669 94% SMAD3-Related Loeys-Dietz Syndrome

SMAD3 1669 94% SMAD3-Related Thoracic Aortic Aneurysms and Aortic Dissections

SMAD4 1703 100% Hereditary Hemorrhagic Telangiectasia

SMAD4 1703 100% Juvenile Polyposis Syndrome

SMAD4 1703 100% SMAD4-Related Juvenile Polyposis

SMAD4 1703 100% Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome

SMAD4 1703 100% SMAD4-Related Hereditary Hemorrhagic Telangiectasia

SMAD4 1703 100% Myhre Syndrome

SMAD4 1703 100% Choriodal Dystrophy, Central Areolar 2

SMAD5 1421 100% .

SMAD6 1545 58% .

SMAD7 1822 83% .

SMAD9 1428 100% SMAD9-Related Heritable Pulmonary Arterial Hypertension

SMAGP 331 98% .

SMAP1 1448 100% .

SMAP2 1529 94% .

SMARCA1 3261 99% .

SMARCA2 4905 97% SMARCA2-Related Coffin-Siris Syndrome

SMARCA2 4905 97% Coffin-Siris Syndrome

SMARCA2 4905 97% Nicolaides-Baraitser Syndrome

SMARCA4 5569 94% SMARCA4-Related Coffin-Siris Syndrome

UCLA Health System




Feb 2013

Page 532


SMARCA4 5569 94% Coffin-Siris Syndrome

SMARCA5 3255 96% .

SMARCAD1 3515 100% .

SMARCAL1 2929 98% Schimke Immunoosseous Dysplasia

SMARCAL1 2929 98% Choriodal Dystrophy, Central Areolar 2

SMARCB1 1337 98% Schwannomatosis

SMARCB1 1337 98% Rhabdoid Tumor Predisposition Syndrome 1

SMARCB1 1337 98% SMARCB1-Related Coffin-Siris Syndrome

SMARCB1 1337 98% Coffin-Siris Syndrome

SMARCC1 3430 99% .

SMARCC2 4720 99% .

SMARCD1 1600 89% .

SMARCD2 1648 87% .

SMARCD3 1547 85% .

SMARCE1 1276 100% SMARCE1-Related Coffin-Siris Syndrome

SMARCE1 1276 100% Coffin-Siris Syndrome

SMC1A 3802 99% Cornelia de Lange Syndrome

SMC1A 3802 99% SMC1A-Related Cornelia de Lange Syndrome

SMC1B 3808 100% .

SMC2 3690 100% .

SMC3 3770 100% Cornelia de Lange Syndrome

SMC3 3770 100% SMC3-Related Cornelia de Lange Syndrome

SMC4 3959 97% .

SMC5 3406 100% .

SMC6 3380 100% .

SMCHD1 6210 99% .

SMCP 355 100% .

SMCR7 2631 97% .

SMCR7L 1408 100% .

SMCR8 2822 100% .

SMEK1 2523 100% .

SMEK2 2618 100% .

SMG1 11238 100% .

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Feb 2013

Page 533


SMG5 3139 100% .

SMG6 6099 97% .

SMG7 4438 99% .

SMG8 2992 100% .

SMG9 1615 100% .

SMN1 1834 6% Spinal Muscular Atrophy (SMN1)

SMN1 1834 6% Spinal Muscular Atrophy

SMN1 1834 6% Choriodal Dystrophy, Central Areolar 2

SMN2 1872 7% Spinal Muscular Atrophy (SMN2)

SMN2 1872 7% Spinal Muscular Atrophy

SMN2 1872 7% Choriodal Dystrophy, Central Areolar 2

SMNDC1 737 100% .

SMO 2412 83% .

SMOC1 1377 95% .

SMOC2 1514 87% .

SMOX 3314 97% .

SMPD1 2697 98% Acid Sphingomyelinase Deficiency

SMPD1 2697 98% Choriodal Dystrophy, Central Areolar 2

SMPD2 1312 100% .

SMPD3 1996 93% .

SMPD4 2681 97% .

SMPDL3A 1394 92% .

SMPDL3B 1772 100% .

SMPX 279 100% DFNX4 (DFN6) Nonsyndromic Hearing Loss and Deafness

SMR3A 413 100% .

SMR3B 248 100% .

SMS 1145 95% Mental Retardation, X-Linked, Snyder-Robinson Type

SMTN 3183 98% .

SMTNL1 1513 99% .

SMTNL2 1510 66% .

SMU1 1590 100% .

SMUG1 1353 100% .

SMURF1 2439 95% .

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Feb 2013

Page 534


SMURF2 2323 98% .

SMYD1 1513 99% .

SMYD2 1350 99% .

SMYD3 1403 97% .

SMYD4 2455 96% .

SMYD5 1309 100% .

SNAI1 807 100% .

SNAI2 819 100% Waardenburg Syndrome Type II

SNAI2 819 100% Piebald Trait, SNAI2-Related

SNAI2 819 100% Waardenburg Syndrome Type IID

SNAI3 891 100% .

SNAP23 664 100% .

SNAP25 771 99% .

SNAP29 797 98% Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome

SNAP47 1813 95% .

SNAP91 2913 100% .

SNAPC1 1147 100% .

SNAPC2 1025 89% .

SNAPC3 1272 79% .

SNAPC4 4498 90% .

SNAPC5 309 100% .

SNAPIN 427 93% .

SNCA 443 100% Parkinson Disease

SNCA 443 100% SNCA-Related Parkinson Disease

SNCAIP 2871 100% Parkinson Disease

SNCB 425 100% .

SNCG 404 92% .

SND1 2829 97% .

SNED1 4366 89% .

SNF8 809 100% .

SNIP1 1207 97% .

SNN 271 100% .

SNPH 1501 87% .

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Feb 2013

Page 535


SNRK 2318 100% .

SNRNP200 6591 100% Retinitis Pigmentosa, Autosomal Dominant

SNRNP200 6591 100% Retinitis Pigmentosa

SNRNP200 6591 100% SNRNP200-Related Retinitis Pigmentosa

SNRNP25 419 91% .

SNRNP27 492 100% .

SNRNP35 1512 100% .

SNRNP40 1114 100% .

SNRNP48 1056 85% .

SNRNP70 1350 64% .

SNRPA 873 100% .

SNRPA1 804 92% .

SNRPB 766 100% .

SNRPB2 702 100% .

SNRPC 504 100% .

SNRPD1 376 100% .

SNRPD2 553 100% .

SNRPD3 393 100% .

SNRPE 299 100% .

SNRPF 277 100% .

SNRPG 247 100% .

SNRPN 751 100% Autistic Disorder

SNRPN 751 100% Autism Spectrum Disorders

SNRPN 751 100% Choriodal Dystrophy, Central Areolar 2

SNTA1 1550 79% Romano-Ward Syndrome

SNTA1 1550 79% Long QT Syndrome 12

SNTB1 1645 99% .

SNTB2 1651 68% .

SNTG1 1622 100% .

SNTG2 1688 95% .

SNTN 460 100% .

SNUPN 1115 100% .

SNURF 228 100% .

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Feb 2013

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SNW1 1738 100% .

SNX1 1629 90% .

SNX10 824 100% .

SNX11 837 100% .

SNX12 781 95% .

SNX13 2978 100% .

SNX14 2957 100% .

SNX15 1061 95% .

SNX16 1063 100% .

SNX17 1473 95% .

SNX18 6189 82% .

SNX19 3023 100% .

SNX2 1620 95% .

SNX20 1106 93% .

SNX21 2688 98% .

SNX22 610 73% .

SNX24 538 97% .

SNX25 2595 100% .

SNX27 1635 86% .

SNX29 2499 100% .

SNX3 505 100% .

SNX30 1350 88% .

SNX31 1379 99% .

SNX32 1264 97% .

SNX33 1733 100% .

SNX4 1409 93% .

SNX5 1267 96% .

SNX6 1439 94% .

SNX7 1392 87% .

SNX8 1442 86% .

SNX9 1860 98% .

SOAT1 1991 100% .

SOAT2 1629 93% .

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Feb 2013

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SOBP 2646 87% .

SOCS1 640 66% .

SOCS2 605 77% .

SOCS3 682 87% .

SOCS4 1327 100% .

SOCS5 1615 100% .

SOCS6 1612 100% .

SOCS7 1782 63% .

SOD1 485 100% SOD1-Related Amyotrophic Lateral Sclerosis

SOD1 485 100% Amyotrophic Lateral Sclerosis

SOD2 689 96% .

SOD3 727 69% .

SOHLH1 1353 90% .

SOHLH2 1322 100% .

SOLH 3305 76% .

SON 7588 100% .

SORBS1 5351 98% .

SORBS2 4763 96% .

SORBS3 2240 94% .

SORCS1 4329 95% .

SORCS2 3588 87% .

SORCS3 3777 87% .

SORD 1110 84% .

SORL1 6837 98% .

SORT1 2789 89% .

SOS1 4094 100% Noonan Syndrome

SOS1 4094 100% SOS1-Related Noonan Syndrome

SOS1 4094 100% Gingival Fibromatosis 1

SOS2 4091 100% .

SOST 650 94% SOST-Related Sclerosing Bone Dysplasias

SOST 650 94% Choriodal Dystrophy, Central Areolar 2

SOSTDC1 629 100% .

SOWAHA 1654 36% .

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Feb 2013

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SOWAHB 2386 84% .

SOWAHC 1582 52% .

SOWAHD 952 30% .

SOX1 1180 38% .

SOX10 1413 93% Waardenburg Syndrome Type II

SOX10 1413 93% Waardenburg Syndrome Type IIE

SOX10 1413 93% Waardenburg Syndrome Type IVC

SOX10 1413 93% Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease

SOX11 1330 65% .

SOX12 952 56% .

SOX13 1921 99% .

SOX14 727 100% .

SOX15 710 79% .

SOX17 1253 79% .

SOX18 1163 40% Hypotrichosis-Lymphedema-Telangiectasia Syndrome

SOX2 958 98% Anophthalmia/Microphthalmia

SOX2 958 98% SOX2-Related Eye Disorders

SOX2 958 98% Choriodal Dystrophy, Central Areolar 2

SOX21 835 51% .

SOX3 1345 54% Mental Retardation, X-Linked, with Growth Hormone Deficiency

SOX3 1345 54% Choriodal Dystrophy, Central Areolar 2

SOX30 2668 91% .

SOX4 1429 70% .

SOX5 2598 100% .

SOX6 3354 100% .

SOX7 1175 100% .

SOX8 1353 80% .

SOX9 1542 100% Campomelic Dysplasia

SP1 4058 100% .

SP100 3555 100% .

SP110 2452 99% Hepatic Veno-occlusive Disease with Immunodeficiency

SP140 2829 97% .

SP140L 1819 100% .

UCLA Health System




Feb 2013

Page 539


SP2 1870 99% .

SP3 2628 89% .

SP4 2379 100% .

SP5 1205 65% .

SP6 1135 92% .

SP7 1304 98% SP7-Related Osteogenesis Imperfecta

SP7 1304 98% Osteogenesis Imperfecta Type XI

SP8 3045 64% .

SP9 1463 57% .

SPA17 472 100% .

SPACA1 913 84% .

SPACA3 668 100% .

SPACA4 379 98% .

SPACA5 992 20% .

SPACA5B 992 20% .

SPACA7 616 100% .

SPAG1 2853 88% .

SPAG11A 343 61% .

SPAG11B 1462 64% .

SPAG16 2134 96% .

SPAG17 6864 99% .

SPAG4 1362 88% .

SPAG5 3678 100% .

SPAG6 1748 99% .

SPAG7 712 100% .

SPAG8 1761 100% .

SPAG9 4086 100% .

SPAM1 2087 97% .

SPANXA1 604 0% .

SPANXA2 604 0% .

SPANXB1 640 0% .

SPANXB2 640 0% .

SPANXC 302 92% .

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Feb 2013

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SPANXD 302 100% .

SPANXE 302 100% .

SPANXF1 640 0% .

SPANXN1 227 100% .

SPANXN2 551 100% .

SPANXN3 434 100% .

SPANXN4 308 100% .

SPANXN5 227 100% .

SPARC 948 100% .

SPARCL1 2035 100% .

SPAST 1919 96% Spastic Paraplegia 4

SPAST 1919 96% Choriodal Dystrophy, Central Areolar 2

SPATA12 577 100% .

SPATA13 4252 100% .

SPATA16 1750 100% Spermatogenic Failure 6

SPATA17 1126 100% .

SPATA18 1669 100% .

SPATA19 528 100% .

SPATA2 1571 100% .

SPATA20 2477 97% .

SPATA21 1454 98% .

SPATA22 1320 100% .

SPATA24 642 100% .

SPATA25 692 100% .

SPATA2L 1283 83% .

SPATA3 591 100% .

SPATA4 942 100% .

SPATA5 2746 100% .

SPATA5L1 2294 88% .

SPATA6 1519 98% .

SPATA7 1848 100% Retinitis Pigmentosa, Autosomal Recessive

SPATA7 1848 100% Leber Congenital Amaurosis

SPATA7 1848 100% Retinitis Pigmentosa

UCLA Health System




Feb 2013

Page 541


SPATA7 1848 100% SPATA7-Related Leber Congenital Amaurosis

SPATA7 1848 100% SPATA7-Related Retinitis Pigmentosa

SPATA8 330 100% .

SPATA9 785 100% .

SPATC1 2130 100% .

SPATS1 935 100% .

SPATS2 1686 100% .

SPATS2L 1721 100% .

SPC24 614 92% .

SPC25 699 100% .

SPCS1 526 91% .

SPCS2 701 83% .

SPCS3 563 100% .

SPDEF 1028 98% .

SPDYA 1290 100% .

SPDYC 910 100% .

SPDYE1 1035 100% .

SPDYE2 2474 24% .

SPDYE2L 2474 24% .

SPDYE3 1690 89% .

SPDYE4 738 100% .

SPDYE5 1042 100% .

SPDYE6 1237 47% .

SPECC1 3543 99% .

SPECC1L 3502 100% .

SPEF1 739 96% .

SPEF2 5832 100% .

SPEG 10160 79% .

SPEM1 942 97% .

SPEN 11055 100% .

SPERT 1359 85% .

SPESP1 1061 100% .

SPG11 7492 100% Spastic Paraplegia 11

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Feb 2013

Page 542


SPG20 2033 100% Troyer Syndrome

SPG21 959 100% Mast Syndrome

SPG7 2606 93% Spastic Paraplegia 7

SPHAR 196 100% .

SPHK1 1886 82% .

SPHK2 3095 99% .

SPHKAP 5151 100% .

SPI1 940 82% .

SPIB 1503 63% .

SPIC 761 100% .

SPICE1 2636 100% .

SPIN1 809 100% .

SPIN2A 781 86% .

SPIN2B 781 86% .

SPIN3 781 100% .

SPIN4 754 100% .

SPINK1 256 100% Hereditary Pancreatitis

SPINK1 256 100% SPINK1-Related Hereditary Pancreatitis

SPINK1 256 100% Choriodal Dystrophy, Central Areolar 2

SPINK13 301 100% .

SPINK14 310 89% .

SPINK2 271 79% .

SPINK4 277 100% .

SPINK5 3522 100% Netherton Syndrome

SPINK5 3522 100% Choriodal Dystrophy, Central Areolar 2

SPINK6 259 100% .

SPINK7 274 100% .

SPINK8 314 100% .

SPINK9 277 100% .

SPINLW1 461 100% .

SPINLW1-WFDC6 603 100% .

SPINT1 1853 100% .

SPINT2 787 86% .

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Feb 2013

Page 543


SPINT3 278 100% .

SPINT4 312 100% .

SPIRE1 2378 86% .

SPIRE2 2205 78% .

SPN 1207 96% .

SPNS1 1880 94% .

SPNS2 1698 79% .

SPNS3 1587 96% .

SPO11 1243 100% .

SPOCD1 3711 91% .

SPOCK1 1360 99% .

SPOCK2 1368 89% .

SPOCK3 2021 100% .

SPON1 2487 94% .

SPON2 1016 81% .

SPOP 1161 100% .

SPOPL 1219 100% .

SPP1 969 100% .

SPP2 664 100% .

SPPL2A 1623 96% .

SPPL2B 2045 89% .

SPPL3 1199 91% .

SPR 798 64% Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency

SPR 798 64% Choriodal Dystrophy, Central Areolar 2

SPRED1 1363 99% Legius Syndrome

SPRED2 1302 98% .

SPRED3 1293 48% .

SPRN 460 9% .

SPRR1A 274 100% .

SPRR1B 274 100% .

SPRR2A 223 100% .

SPRR2B 223 100% .

SPRR2D 223 100% .

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Feb 2013

Page 544


SPRR2E 223 100% .

SPRR2F 223 100% .

SPRR2G 226 100% .

SPRR3 514 100% .

SPRR4 244 100% .

SPRY1 964 100% .

SPRY2 952 100% .

SPRY3 1742 50% .

SPRY4 1928 100% .

SPRYD3 1373 89% .

SPRYD4 632 100% .

SPRYD5 1383 100% .

SPRYD7 611 99% .

SPSB1 830 100% .

SPSB2 800 99% .

SPSB3 1092 98% .

SPSB4 830 59% .

SPTA1 7468 100% Spherocytosis, Type 3

SPTA1 7468 100% Elliptocytosis 2

SPTA1 7468 100% Hereditary Pyropoikilocytosis

SPTAN1 7658 100% Epileptic Encephalopathy, Early Infantile, 5

SPTB 7345 98% Spherocytosis, Type 2

SPTB 7345 98% Elliptocytosis 3

SPTBN1 7590 100% .

SPTBN2 7317 98% Spinocerebellar Ataxia Type 5

SPTBN4 8423 72% .

SPTBN5 11188 92% .

SPTLC1 1491 100% Hereditary Sensory Neuropathy Type IA

SPTLC1 1491 100% Hereditary Sensory and Autonomic Neuropathy II

SPTLC1 1491 100% Choriodal Dystrophy, Central Areolar 2

SPTLC2 1737 92% Hereditary Sensory and Autonomic Neuropathy Type IC

SPTLC3 1707 100% .

SPTSSA 224 98% .

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Feb 2013

Page 545


SPTSSB 235 100% .

SPTY2D1 2082 100% .

SPZ1 1297 100% .

SQLE 1769 100% .

SQRDL 1389 92% .

SQSTM1 1455 93% Paget Disease of Bone

SRA1 926 91% .

SRBD1 3068 100% .

SRC 1655 92% .

SRCAP 9821 99% Floating-Harbor Syndrome

SRCIN1 3628 70% .

SRCRB4D 1768 75% .

SRD5A1 800 94% .

SRD5A2 784 100% Prostate Cancer

SRD5A2 784 100% Steroid 5-Alpha-Reductase Deficiency

SRD5A2 784 100% Choriodal Dystrophy, Central Areolar 2

SRD5A3 977 98% Congenital Disorders of Glycosylation

SRD5A3 977 98% SRD5A3-CDG (CDG-Iq)

SREBF1 3614 80% .

SREBF2 3502 94% .

SREK1 2043 92% .

SREK1IP1 488 100% .

SRF 1555 82% .

SRFBP1 1322 100% .

SRGAP1 3346 100% .

SRGAP2 3424 97% .

SRGAP3 3423 97% .

SRGN 489 100% .

SRI 639 92% .

SRL 1446 99% .

SRM 941 88% .

SRMS 1499 83% .

SRP14 431 100% .

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Feb 2013

Page 546


SRP19 731 100% .

SRP54 1657 100% .

SRP68 1948 100% .

SRP72 2092 100% .

SRP9 385 71% .

SRPK1 2032 99% .

SRPK2 2206 100% .

SRPK3 2389 94% .

SRPR 1973 100% .

SRPRB 844 100% .

SRPX 1623 95% .

SRPX2 1438 99% Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked

SRR 1051 100% .

SRRD 1048 80% .

SRRM1 2783 100% .

SRRM2 8315 99% .

SRRM3 2017 47% .

SRRM4 1888 100% .

SRRM5 2187 12% .

SRRT 2975 100% .

SRSF1 1048 100% .

SRSF10 971 30% .

SRSF11 1705 100% .

SRSF12 806 100% .

SRSF2 674 100% .

SRSF3 515 100% .

SRSF4 1509 100% .

SRSF5 847 100% .

SRSF6 1059 90% .

SRSF7 749 100% .

SRSF8 852 95% .

SRSF9 682 99% .

SRXN1 422 77% .

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Feb 2013

Page 547


SRY 619 100% SRY-Related 46,XY DSD and 46,XY CGD

SRY 619 100% 46,XX Testicular Disorder of Sex Development

SRY 619 100% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

SRY 619 100% Choriodal Dystrophy, Central Areolar 2

SS18 1301 98% .

SS18L1 1235 91% .

SS18L2 246 100% .

SSB 1271 100% .

SSBP1 471 100% .

SSBP2 1154 96% .

SSBP3 1239 93% .

SSBP4 1230 68% .

SSC5D 4853 73% .

SSFA2 3948 95% .

SSH1 4277 97% .

SSH2 4332 99% .

SSH3 2036 95% .

SSNA1 372 100% .

SSPN 835 76% .

SSPO 17129 86% .

SSR1 893 100% .

SSR2 572 100% .

SSR3 578 100% .

SSR4 702 81% .

SSRP1 2194 100% .

SSSCA1 616 100% .

SST 359 73% .

SSTR1 1180 100% .

SSTR2 1114 100% .

SSTR3 1261 100% .

SSTR4 1171 100% .

SSTR5 1099 100% .

SSU72 605 92% .

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Feb 2013

Page 548


SSX1 591 100% .

SSX2 1692 0% .

SSX2B 1182 0% .

SSX2IP 2071 100% .

SSX3 642 100% .

SSX4 1470 23% .

SSX4B 1470 23% .

SSX5 718 100% .

SSX7 591 100% .

ST13 1158 100% .

ST14 2644 92% .

ST18 3224 100% .

ST20 248 80% .

ST20-MTHFS 552 91% .

ST3GAL1 1047 100% .

ST3GAL2 1077 100% .

ST3GAL3 1644 100% .

ST3GAL4 1184 99% .

ST3GAL5 1302 93% Amish Infantile Epilepsy Syndrome

ST3GAL6 1032 100% .

ST5 3490 97% .

ST6GAL1 1343 100% .

ST6GAL2 1697 99% .

ST6GALNAC1 1839 100% .

ST6GALNAC2 1161 88% .

ST6GALNAC3 952 97% .

ST6GALNAC4 1346 97% .

ST6GALNAC5 1031 98% .

ST6GALNAC6 1026 100% .

ST7 1922 100% .

ST7L 2097 98% .

ST8SIA1 1091 100% .

ST8SIA2 1152 92% .

UCLA Health System




Feb 2013

Page 549


ST8SIA3 1159 100% .

ST8SIA4 1370 100% .

ST8SIA5 1159 100% .

ST8SIA6 1229 90% .

STAB1 7989 97% .

STAB2 7932 98% .

STAC 1253 100% .

STAC2 1280 97% .

STAC3 1139 100% .

STAG1 3909 100% .

STAG2 3939 100% .

STAG3 3810 100% .

STAM 1679 100% .

STAM2 1634 100% .

STAMBP 1311 100% .

STAMBPL1 1351 100% .

STAP1 924 100% .

STAP2 1619 70% .

STAR 886 100% Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia

STARD10 900 100% .

STARD13 4021 100% .

STARD3 1605 100% .

STARD3NL 733 100% .

STARD4 638 100% .

STARD5 666 99% .

STARD6 687 100% .

STARD7 1145 96% .

STARD8 3440 93% .

STARD9 14235 50% .

STAT1 2433 100% Familial Atypical Mycobacteriosis, STAT1-Related

STAT2 2748 100% .

STAT3 2739 100% Autosomal Dominant Hyper IgE Syndrome

STAT4 2339 100% .

UCLA Health System




Feb 2013

Page 550


STAT5A 2457 98% .

STAT5B 2436 98% Growth Hormone Insensitivity with Immunodeficiency

STAT6 2716 100% .

STATH 205 100% .

STAU1 2178 100% .

STAU2 2529 92% .

STBD1 1085 96% .

STC1 760 100% .

STC2 925 100% .

STEAP1 1036 100% .

STEAP1B 1599 100% .

STEAP2 1853 100% .

STEAP3 2021 100% .

STEAP4 1396 100% .

STH 391 100% .

STIL 4149 100% Primary Autosomal Recessive Microcephaly

STIL 4149 100% Primary Autosomal Recessive Microcephaly Type 7

STIM1 2106 96% .

STIM2 2358 92% .

STIP1 1688 99% .

STK10 2983 97% .

STK11 1338 83% Peutz-Jeghers Syndrome

STK11 1338 83% Choriodal Dystrophy, Central Areolar 2

STK11IP 3400 100% .

STK16 946 100% .

STK17A 1273 90% .

STK17B 1147 100% .

STK19 1302 94% .

STK24 1422 97% .

STK25 1325 98% .

STK3 1520 98% .

STK31 3207 100% .

STK32A 1272 100% .

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Feb 2013

Page 551


STK32B 1293 99% .

STK32C 1509 81% .

STK33 1593 100% .

STK35 1617 67% .

STK36 4131 100% .

STK38 1450 100% .

STK38L 1447 100% .

STK39 1710 90% .

STK4 1508 97% .

STK40 1348 100% .

STMN1 617 76% .

STMN2 710 88% .

STMN3 563 86% .

STMN4 675 100% .

STOM 895 93% .

STOML1 1225 94% .

STOML2 1111 100% .

STOML3 933 97% .

STON1 2220 100% .

STON1-GTF2A1L 3629 100% .

STON2 3050 100% .

STOX1 5810 95% .

STOX2 2797 100% .

STRA13 208 38% .

STRA6 2735 82% Syndromic Microphthalmia 9

STRA8 1029 81% .

STRADA 2204 99% .

STRADB 1301 100% .

STRAP 1093 100% .

STRBP 2312 100% .

STRC 5444 46% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

STRC 5444 46% DFNB16 Nonsyndromic Hearing Loss and Deafness

STRC 5444 46% Deafness-Infertility Syndrome

UCLA Health System




Feb 2013

Page 552


STRC 5444 46% CATSPER-Related Male Infertility

STRN 2415 97% .

STRN3 2466 92% .

STRN4 2471 87% .

STS 1792 99% Ichthyosis, X-Linked

STS 1792 99% Choriodal Dystrophy, Central Areolar 2

STT3A 2186 100% .

STT3B 2545 97% .

STUB1 940 80% .

STX10 782 97% .

STX11 868 100% Familial Hemophagocytic Lymphohistiocytosis

STX11 868 100% Familial Hemophagocytic Lymphohistiocytosis 4

STX12 867 100% .

STX16 1262 100% Pseudohypoparathyroidism Type IB

STX17 937 100% .

STX18 1052 100% .

STX19 889 100% .

STX1A 1104 97% .

STX1B 907 95% .

STX2 989 97% .

STX3 962 94% .

STX4 934 96% .

STX5 1272 83% .

STX6 800 100% .

STX7 822 100% .

STX8 743 97% .

STXBP1 1975 95% Epileptic Encephalopathy, Early Infantile, 4

STXBP2 1941 84% Familial Hemophagocytic Lymphohistiocytosis

STXBP2 1941 84% Familial Hemophagocytic Lymphohistiocytosis 5

STXBP3 1855 97% .

STXBP4 1726 100% .

STXBP5 3568 100% .

STXBP5L 3669 100% .

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Feb 2013

Page 553


STXBP6 653 99% .

STYK1 1305 100% .

STYX 716 100% .

STYXL1 974 100% .

SUB1 400 100% .

SUCLA2 1436 99% SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria

SUCLA2 1436 99% Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form

SUCLG1 1077 91% Fatal Infantile Lactic Acidosis

SUCLG1 1077 91% SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria

SUCLG1 1077 91% Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form

SUCLG2 1487 86% .

SUCNR1 1013 100% .

SUDS3 1035 87% .

SUFU 1513 99% Medulloblastoma, SUFU-Related

SUGP1 1994 100% .

SUGP2 3285 100% .

SUGT1 1154 91% .

SULF1 2692 100% .

SULF2 2731 94% .

SULT1A1 1062 93% .

SULT1A2 916 100% .

SULT1A3 1832 6% .

SULT1A4 1832 6% .

SULT1B1 919 100% .

SULT1C2 1120 91% .

SULT1C3 943 100% .

SULT1C4 937 100% .

SULT1E1 913 100% .

SULT2A1 882 100% .

SULT2B1 1325 92% .

SULT4A1 883 87% .

SULT6B1 826 100% .

SUMF1 1161 96% Multiple Sulfatase Deficiency

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Feb 2013

Page 554


SUMF2 1725 95% .

SUMO1 326 100% Cleft Lip +/- Cleft Palate

SUMO1 326 100% Orofacial Cleft10

SUMO2 304 100% .

SUMO3 328 92% .

SUMO4 292 100% .

SUN1 3358 98% .

SUN2 2448 96% .

SUN3 1114 100% .

SUN5 1192 88% .

SUOX 1650 100% Sulfocysteinuria

SUOX 1650 100% Choriodal Dystrophy, Central Areolar 2

SUPT16H 3248 100% .

SUPT3H 1136 100% .

SUPT4H1 374 100% .

SUPT5H 3380 99% .

SUPT6H 5325 99% .

SUPT7L 1265 100% .

SUPV3L1 2421 100% .

SURF1 939 88% Leigh Syndrome (nuclear DNA mutation)

SURF1 939 88% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)

SURF1 939 88% Choriodal Dystrophy, Central Areolar 2

SURF2 795 73% .

SURF4 834 94% .

SURF6 1106 99% .

SUSD1 2312 95% .

SUSD2 2529 96% .

SUSD3 788 88% .

SUSD4 1658 99% .

SUSD5 1910 94% .

SUV39H1 1263 92% .

SUV39H2 3285 99% .

SUV420H1 2915 100% .

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Feb 2013

Page 555


SUV420H2 1421 74% .

SUZ12 2284 96% .

SV2A 2277 100% .

SV2B 2285 100% .

SV2C 2232 100% .

SVEP1 10908 99% .

SVIL 6785 100% .

SVIP 250 98% .

SVOP 1548 59% .

SVOPL 1615 100% .

SWAP70 1806 97% .

SWI5 728 100% .

SWSAP1 698 100% .

SWT1 2775 100% .

SYAP1 1095 86% .

SYBU 2685 99% .

SYCE1 1218 98% .

SYCE1L 773 50% .

SYCE2 681 100% .

SYCE3 275 57% .

SYCN 413 98% .

SYCP1 3055 100% .

SYCP2 4765 100% .

SYCP2L 2555 100% .

SYCP3 769 100% SYCP3-Related Pregnancy Loss, Susceptibility to

SYCP3 769 100% Azoospermia due to Perturbations of Meiosis

SYDE1 2240 55% .

SYDE2 3613 91% .

SYF2 760 100% .

SYK 1960 100% .

SYMPK 3929 88% .

SYN1 2310 54% Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders

SYN2 2003 86% .

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Feb 2013

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SYN3 2096 96% .

SYNC 1608 96% .

SYNCRIP 3040 100% .

SYNDIG1 789 100% .

SYNDIG1L 729 100% .

SYNE1 27725 100% SYNE1-Related Autosomal Recessive Cerebellar Ataxia

SYNE1 27725 100% SYNE1-Related Emery-Dreifuss Muscular Dystrophy

SYNE2 21883 100% SYNE2-Related Emery-Dreifuss Muscular Dystrophy

SYNGAP1 4108 95% Mental Retardation, Autosomal Dominant 5

SYNGR1 921 92% .

SYNGR2 691 85% .

SYNGR3 706 54% .

SYNGR4 721 100% .

SYNJ1 5321 96% .

SYNJ2 4599 95% .

SYNJ2BP 454 100% .

SYNJ2BP-COX16 718 100% .

SYNM 12105 94% .

SYNPO 8274 90% .

SYNPO2 6135 99% .

SYNPO2L 3054 89% .

SYNPR 910 90% .

SYNRG 4830 97% .

SYP 966 90% SYP-Related X-Linked Mental Retardation

SYPL1 880 96% .

SYPL2 843 84% .

SYS1 488 73% .

SYT1 1301 100% .

SYT10 1600 100% .

SYT11 1312 100% .

SYT12 1294 100% .

SYT13 1444 95% .

SYT14 2100 94% .

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Feb 2013

Page 557


SYT15 1352 100% .

SYT16 1962 100% .

SYT17 1457 99% .

SYT2 1292 100% .

SYT3 1805 90% .

SYT4 1294 100% .

SYT5 1193 88% .

SYT6 1563 100% .

SYT7 1248 88% .

SYT8 1242 96% .

SYT9 1504 91% .

SYTL1 1822 68% .

SYTL2 5637 100% .

SYTL3 1681 94% .

SYTL4 2080 100% .

SYTL5 2327 96% .

SYVN1 2092 99% .

SZT2 8330 98% .

T 1340 100% .

TAAR1 1024 100% .

TAAR2 2064 100% .

TAAR5 1018 100% .

TAAR6 1042 100% Schizophrenia

TAAR8 1033 100% .

TAAR9 1051 100% .

TAB1 1645 98% .

TAB2 2106 100% .

TAB3 2167 100% .

TAC1 414 100% .

TAC3 386 100% .

TAC4 489 100% .

TACC1 3588 95% .

TACC2 9007 99% .

UCLA Health System




Feb 2013

Page 558


TACC3 2577 95% .

TACO1 914 90% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes)

TACR1 1453 100% .

TACR2 1217 99% .

TACR3 1418 100% Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

TACR3 1418 100% TACR3-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

TACSTD2 976 76% Corneal Dystrophy, Gelatinous Drop-Like

TACSTD2 976 76% Choriodal Dystrophy, Central Areolar 2

TADA1 1040 100% .

TADA2A 1697 100% .

TADA2B 1271 92% .

TADA3 1529 100% .

TAF1 6080 100% X-Linked Dystonia-Parkinsonism Syndrome

TAF10 677 68% .

TAF11 656 100% .

TAF12 506 100% .

TAF13 391 100% .

TAF15 1932 100% .

TAF1A 1511 100% .

TAF1B 1827 99% .

TAF1C 4160 94% .

TAF1D 857 100% .

TAF1L 5485 100% .

TAF2 3704 100% .

TAF3 2818 96% .

TAF4 3318 63% .

TAF4B 2649 98% .

TAF5 2447 87% .

TAF5L 2527 100% .

TAF6 2540 99% .

TAF6L 1909 90% .

TAF7 1054 100% .

TAF7L 1513 100% .

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Feb 2013

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TAF8 969 95% .

TAF9 1361 99% .

TAF9B 784 100% .

TAGAP 2582 100% .

TAGLN 622 100% .

TAGLN2 616 100% .

TAGLN3 616 100% .

TAL1 1008 70% .

TAL2 331 100% .

TALDO1 1046 100% Transaldolase Deficiency

TAMM41 979 100% .

TANC1 7502 100% .

TANC2 6073 99% .

TANK 1495 100% .

TAOK1 3082 100% .

TAOK2 8138 98% .

TAOK3 2773 100% .

TAP1 2471 96% .

TAP2 2190 98% .

TAPBP 1778 100% .

TAPBPL 1435 92% .

TAPT1 1760 88% .

TARBP1 4986 87% .

TARBP2 1311 87% .

TARDBP 1265 100% Amyotrophic Lateral Sclerosis

TARDBP 1265 100% TARDBP-Related Amyotrophic Lateral Sclerosis

TARDBP 1265 100% TARDBP-Related Frontotemporal Dementia

TARM1 836 0% .

TARP 843 100% .

TARS 2248 100% .

TARS2 2229 100% .

TARSL2 2485 95% .

TAS1R1 2550 99% .

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Feb 2013

Page 560


TAS1R2 2544 100% .

TAS1R3 2583 98% .

TAS2R1 904 100% .

TAS2R10 928 100% .

TAS2R13 916 100% .

TAS2R14 958 100% .

TAS2R16 880 100% .

TAS2R19 904 100% .

TAS2R20 934 100% .

TAS2R3 955 100% .

TAS2R30 964 100% .

TAS2R31 934 100% .

TAS2R38 1006 100% .

TAS2R39 1021 100% .

TAS2R4 904 100% .

TAS2R40 976 100% .

TAS2R41 928 100% .

TAS2R42 949 100% .

TAS2R43 934 99% .

TAS2R46 934 100% .

TAS2R5 904 100% .

TAS2R50 904 100% .

TAS2R60 961 100% .

TAS2R7 961 100% .

TAS2R8 934 100% .

TAS2R9 943 100% .

TASP1 1315 100% .

TAT 1409 96% Tyrosinemia Type II

TAT 1409 96% Choriodal Dystrophy, Central Areolar 2

TATDN1 1010 100% .

TATDN2 2310 100% .

TATDN3 1246 100% .

TAX1BP1 2773 100% .

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Feb 2013

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TAX1BP3 391 100% .

TAZ 923 94% 3-Methylglutaconic Aciduria Type 2

TAZ 923 94% Dilated Cardiomyopathy

TAZ 923 94% Familial Isolated Noncompaction of Left Ventricular Myocardium

TAZ 923 94% Endocardial Fibroelastosis

TAZ 923 94% TAZ-Related Dilated Cardiomyopathy

TAZ 923 94% Choriodal Dystrophy, Central Areolar 2

TBC1D1 4180 100% .

TBC1D10A 1667 100% .

TBC1D10B 2463 75% .

TBC1D10C 1377 70% .

TBC1D12 2380 76% .

TBC1D13 1251 98% .

TBC1D14 2141 100% .

TBC1D15 2206 97% .

TBC1D16 2348 84% .

TBC1D17 2015 86% .

TBC1D19 1665 100% .

TBC1D2 2806 97% .

TBC1D20 1244 94% .

TBC1D21 1055 100% .

TBC1D22A 1606 94% .

TBC1D22B 1570 96% .

TBC1D23 2176 100% .

TBC1D24 1708 97% Familial Infantile Myoclonic Epilepsy

TBC1D25 2091 93% .

TBC1D26 789 91% .

TBC1D28 661 87% .

TBC1D29 473 100% .

TBC1D2B 3144 91% .

TBC1D3 3404 21% .

TBC1D30 2334 87% .

TBC1D3B 1702 53% .

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Feb 2013

Page 562


TBC1D3C 1702 40% .

TBC1D3F 3404 21% .

TBC1D3G 1702 32% .

TBC1D3H 1702 9% .

TBC1D4 3981 100% .

TBC1D5 2538 100% .

TBC1D7 910 100% .

TBC1D8 3503 96% .

TBC1D8B 3513 100% .

TBC1D9 3885 100% .

TBC1D9B 3841 93% .

TBCA 343 88% .

TBCB 759 79% .

TBCC 1045 100% .

TBCCD1 1698 100% .

TBCD 3735 94% .

TBCE 1648 100% .

TBCEL 1303 100% .

TBCK 2928 100% .

TBK1 2270 100% .

TBKBP1 1884 64% .

TBL1X 1906 93% .

TBL1XR1 1601 100% .

TBL1Y 1625 99% .

TBL2 1372 99% .

TBL3 2515 94% .

TBP 1495 100% Spinocerebellar Ataxia Type17

TBPL1 585 100% .

TBPL2 1156 100% .

TBR1 2073 87% .

TBRG1 1272 100% .

TBRG4 1936 100% .

TBX1 1826 74% 22q11.2 Deletion Syndrome

UCLA Health System




Feb 2013

Page 563


TBX10 1190 86% .

TBX15 1519 100% .

TBX18 1856 97% .

TBX19 1379 100% ACTH Deficiency

TBX2 2167 66% .

TBX20 1465 99% Isolated Nonsyndromic Congenital Heart Disease/Defects

TBX21 1632 77% .

TBX22 1701 99% Cleft Palate, X-Linked

TBX3 2264 66% Ulnar-Mammary Syndrome

TBX3 2264 66% Choriodal Dystrophy, Central Areolar 2

TBX4 1670 91% Small Patella Syndrome

TBX5 2055 100% TBX5-Related Holt-Oram Syndrome

TBX5 2055 100% Choriodal Dystrophy, Central Areolar 2

TBX6 1343 87% .

TBXA2R 1535 77% .

TBXAS1 1935 100% .

TC2N 1517 100% .

TCAP 512 100% Familial Hypertrophic Cardiomyopathy

TCAP 512 100% Dilated Cardiomyopathy

TCAP 512 100% Limb-Girdle Muscular Dystrophies, Autosomal Recessive

TCAP 512 100% Limb-Girdle Muscular Dystrophy Type 2G

TCAP 512 100% TCAP-Related Familial Hypertrophic Cardiomyopathy

TCAP 512 100% TCAP-Related Dilated Cardiomyopathy

TCAP 512 100% Choriodal Dystrophy, Central Areolar 2

TCEA1 946 100% .

TCEA2 1007 92% .

TCEA3 1091 100% .

TCEAL1 484 92% .

TCEAL2 688 100% .

TCEAL3 607 100% .

TCEAL4 652 100% .

TCEAL5 625 100% .

TCEAL6 556 100% .

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Feb 2013

Page 564


TCEAL7 307 100% .

TCEAL8 358 100% .

TCEANC 1154 93% .

TCEANC2 643 100% .

TCEB1 499 100% .

TCEB2 627 94% .

TCEB3 2441 91% .

TCEB3B 2266 100% .

TCEB3C 3290 42% .

TCEB3CL 4935 41% .

TCERG1 3385 100% .

TCERG1L 1809 76% .

TCF12 2270 100% .

TCF15 608 34% .

TCF19 1050 97% .

TCF20 5921 100% .

TCF21 548 100% .

TCF23 657 75% .

TCF24 512 2% .

TCF25 2103 98% .

TCF3 2268 64% .

TCF4 2790 100% Pitt-Hopkins Syndrome

TCF7 1493 83% .

TCF7L1 1815 86% .

TCF7L2 2919 100% .

TCFL5 1527 80% .

TCHH 5840 100% .

TCHHL1 2723 100% .

TCHP 1545 94% .

TCIRG1 2656 75% TCIRG1-Related Autosomal Recessive Osteopetrosis

TCL1A 357 100% .

TCL1B 399 100% .

TCN1 1338 100% .

UCLA Health System




Feb 2013

Page 565


TCN2 1494 100% Transcobalamin II Deficiency

TCOF1 4686 97% TCOF1-Related Treacher Collins Syndrome

TCOF1 4686 97% Treacher Collins Syndrome

TCOF1 4686 97% Choriodal Dystrophy, Central Areolar 2

TCP1 1834 100% .

TCP10 1009 87% .

TCP10L 664 100% .

TCP10L2 1090 94% .

TCP11 1645 98% .

TCP11L1 1566 100% .

TCP11L2 1596 100% .

TCTA 324 100% .

TCTE1 1522 100% .

TCTE3 613 100% .

TCTEX1D1 556 100% .

TCTEX1D2 449 97% .

TCTEX1D4 670 36% .

TCTN1 2319 90% Joubert Syndrome and Related Disorders

TCTN1 2319 90% TCTN1-Related Joubert Syndrome

TCTN2 2366 100% Joubert Syndrome and Related Disorders

TCTN2 2366 100% TCTN2-Related Joubert Syndrome

TCTN3 1880 99% .

TDG 1273 99% .

TDGF1 648 100% .

TDO2 1269 100% .

TDP1 1887 100% Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive

TDP2 1117 100% .

TDRD1 3670 100% .

TDRD10 1335 97% .

TDRD12 1240 98% .

TDRD3 2452 92% .

TDRD5 3401 100% .

TDRD6 6307 95% .

UCLA Health System




Feb 2013

Page 566


TDRD7 3361 100% Cataract, Autosomal Recessive Congenital 4

TDRD9 4293 96% .

TDRKH 2072 100% .

TEAD1 1325 100% .

TEAD2 1388 100% .

TEAD3 1356 100% .

TEAD4 1482 100% .

TEC 1964 100% .

TECPR1 3594 93% .

TECPR2 4495 99% .

TECR 979 100% .

TECRL 1140 100% .

TECTA 6560 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

TECTA 6560 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

TECTA 6560 99% DFNA 8/12 Nonsyndromic Hearing Loss and Deafness

TECTA 6560 99% DFNB21 Nonsyndromic Hearing Loss and Deafness

TECTB 1030 100% .

TEDDM1 826 100% .

TEF 999 77% .

TEFM 1099 100% .

TEK 3467 100% Multiple Cutaneous and Mucosal Venous Malformations

TEK 3467 100% Choriodal Dystrophy, Central Areolar 2

TEKT1 1285 100% .

TEKT2 1329 99% .

TEKT3 1501 100% .

TEKT4 1332 95% .

TEKT5 1486 100% .

TELO2 2594 90% .

TEN1 381 89% .

TENC1 4631 100% .

TEP1 8100 100% .

TEPP 1079 93% .

TERF1 1360 100% .

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Feb 2013

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TERF2 1543 98% .

TERF2IP 1212 80% .

TERT 3463 73% Dyskeratosis Congenita

TERT 3463 73% Familial Pulmonary Fibrosis

TERT 3463 73% TERT-Related Dyskeratosis Congenita

TERT 3463 73% TERT-Related Idiopathic Pulmonary Fibrosis

TERT 3463 73% Aplastic Anemia, TERT-Related

TERT 3463 73% TERT-Related Familial Pulmonary Fibrosis

TES 1294 98% .

TESC 677 64% .

TESK1 1921 96% .

TESK2 1756 100% .

TET1 6455 100% .

TET2 9636 99% .

TET3 5019 99% .

TEX10 3264 100% .

TEX101 935 99% .

TEX11 2980 97% .

TEX12 388 100% .

TEX13A 2842 100% .

TEX13B 947 100% .

TEX14 4739 100% .

TEX15 8386 100% .

TEX19 499 100% .

TEX2 3449 100% .

TEX22 465 57% .

TEX261 615 100% .

TEX264 958 100% .

TEX28 1249 0% .

TEX9 1224 100% .

TF 2165 99% Atransferrinemia

TFAM 769 89% .

TFAP2A 1410 95% Branchiooculofacial Syndrome

UCLA Health System




Feb 2013

Page 568


TFAP2B 1411 97% Char Syndrome

TFAP2B 1411 97% Choriodal Dystrophy, Central Areolar 2

TFAP2C 1381 97% .

TFAP2D 1391 100% .

TFAP2E 1357 67% .

TFAP4 1045 100% .

TFB1M 1069 100% .

TFB2M 1223 100% .

TFCP2 1611 100% .

TFCP2L1 1500 95% .

TFDP1 1277 100% .

TFDP2 2032 94% .

TFDP3 1222 100% .

TFE3 1768 86% .

TFEB 1463 90% .

TFEC 1072 100% .

TFF1 267 95% .

TFF2 406 88% .

TFF3 297 100% .

TFG 1376 100% .

TFIP11 2562 100% .

TFPI 1075 100% .

TFPI2 728 100% .

TFPT 786 100% .

TFR2 2623 84% TFR2-Related Hereditary Hemochromatosis

TFRC 2355 100% .

TG 8499 100% Thyroid Dyshormonogenesis 3

TGDS 1101 100% .

TGFA 632 88% .

TGFB1 1201 71% Camurati-Engelmann Disease

TGFB1 1201 71% Choriodal Dystrophy, Central Areolar 2

TGFB1I1 1550 98% .

TGFB2 1361 100% .

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Feb 2013

Page 569


TGFB3 1267 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

TGFB3 1267 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 1

TGFBI 2120 93% Avellino Corneal Dystrophy

TGFBI 2120 93% Lattice Corneal Dystrophy Type I

TGFBI 2120 93% Lattice Corneal Dystrophy Type IIIa

TGFBI 2120 93% Corneal Dystrophy of Bowman Layer, Type 1

TGFBI 2120 93% Corneal Dystrophy, Epithelial Basement Membrane

TGFBI 2120 93% Choriodal Dystrophy, Central Areolar 2

TGFBR1 1548 93% Thoracic Aortic Aneurysms and Aortic Dissections

TGFBR1 1548 93% TGFBR1-Related Loeys-Dietz Syndrome

TGFBR1 1548 93% Loeys-Dietz Syndrome

TGFBR1 1548 93% Furlong Syndrome

TGFBR1 1548 93% TGFBR1-Related Thoracic Aortic Aneurysms and Aortic Dissections

TGFBR2 1811 98% Thoracic Aortic Aneurysms and Aortic Dissections

TGFBR2 1811 98% TGFBR2-Related Loeys-Dietz Syndrome

TGFBR2 1811 98% Loeys-Dietz Syndrome

TGFBR2 1811 98% TGFBR2-Related Thoracic Aortic Aneurysms and Aortic Dissections

TGFBR2 1811 98% Choriodal Dystrophy, Central Areolar 2

TGFBR3 2962 97% .

TGFBRAP1 2627 100% .

TGIF1 1531 99% Holoprosencephaly

TGIF1 1531 99% TGIF1-Related Holoprosencephaly

TGIF1 1531 99% Choriodal Dystrophy, Central Areolar 2

TGIF2 722 100% .

TGIF2-C20ORF24 684 100% .

TGIF2LX 730 100% .

TGIF2LY 562 100% .

TGM1 2510 98% Autosomal Recessive Congenital Ichthyosis

TGM1 2510 98% TGM1-Related Autosomal Recessive Congenital Ichthyosis

TGM1 2510 98% Choriodal Dystrophy, Central Areolar 2

TGM2 2457 94% .

TGM3 2134 98% .

TGM4 2111 100% .

UCLA Health System




Feb 2013

Page 570


TGM5 2215 100% Peeling Skin Syndrome, Acral Type

TGM6 2331 100% .

TGM7 2185 100% .

TGOLN2 3714 100% .

TGS1 2614 100% .

TH 1749 78% Tyrosine Hydroxylase Deficiency

TH 1749 78% Dopa-Responsive Dystonia

TH 1749 78% Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

TH 1749 78% Choriodal Dystrophy, Central Areolar 2

TH1L 1833 96% .

THADA 6010 100% .

THAP1 1033 100% Dystonia 6

THAP10 786 97% .

THAP11 949 90% .

THAP2 699 100% .

THAP3 1034 93% .

THAP4 1766 95% .

THAP5 1397 100% .

THAP6 685 100% .

THAP7 946 68% .

THAP8 841 58% .

THAP9 2732 100% .

THBD 1732 62% Atypical Hemolytic-Uremic Syndrome

THBD 1732 62% THBD-Related Atypical Hemolytic-Uremic Syndrome

THBS1 3597 100% .

THBS2 3603 96% .

THBS3 2963 100% .

THBS4 2974 95% .

THEG 1172 100% .

THEM4 747 86% .

THEM5 768 100% .

THEMIS 2234 95% .

THG1L 921 100% .

UCLA Health System




Feb 2013

Page 571


THNSL1 2236 100% .

THNSL2 1874 96% .

THOC1 2058 100% .

THOC2 4934 100% .

THOC3 1080 88% .

THOC5 2128 100% .

THOC6 1078 100% .

THOC7 647 96% .

THOP1 2122 88% .

THPO 2422 100% THPO-Related Essential Thrombocythemia

THRA 2254 100% .

THRAP3 2908 100% .

THRB 1418 100% Thyroid Hormone Resistance

THRB 1418 100% Choriodal Dystrophy, Central Areolar 2

THRSP 445 100% .

THSD1 2575 100% .

THSD4 3125 88% .

THSD7A 5082 100% .

THSD7B 4841 100% .

THTPA 1953 100% .

THUMPD1 1078 88% .

THUMPD2 1552 92% .

THUMPD3 1560 100% .

THY1 498 100% .

THYN1 757 100% .

TIA1 1213 100% .

TIAF1 352 100% .

TIAL1 1381 100% .

TIAM1 4876 100% .

TIAM2 5386 100% .

TICAM1 2143 100% .

TICAM2 712 100% .

TIE1 3890 90% .

UCLA Health System




Feb 2013

Page 572


TIFA 559 100% .

TIFAB 490 100% .

TIGD1 1780 0% .

TIGD2 1582 100% .

TIGD3 1420 100% .

TIGD4 1543 100% .

TIGD5 1933 61% .

TIGD6 1570 100% .

TIGD7 1654 100% .

TIGIT 751 100% .

TIMD4 1173 100% .

TIMELESS 3739 100% .

TIMM10 281 100% .

TIMM13 300 98% .

TIMM17A 540 100% .

TIMM17B 697 62% .

TIMM21 771 100% .

TIMM22 601 99% .

TIMM23 658 44% .

TIMM44 1411 97% .

TIMM50 1415 98% .

TIMM8A 321 98% Deafness-Dystonia-Optic Neuronopathy Syndrome

TIMM8A 321 98% Choriodal Dystrophy, Central Areolar 2

TIMM8B 305 100% .

TIMM9 282 100% .

TIMMDC1 886 100% .

TIMP1 644 98% .

TIMP2 683 80% .

TIMP3 656 89% Pseudoinflammatory Fundus Dystrophy

TIMP3 656 89% Choriodal Dystrophy, Central Areolar 2

TIMP4 695 100% .

TINAG 1475 100% .

TINAGL1 1516 89% .

UCLA Health System




Feb 2013

Page 573


TINF2 1861 100% Dyskeratosis Congenita

TINF2 1861 100% TINF2-Related Dyskeratosis Congenita

TINF2 1861 100% Revesz Syndrome

TIPARP 1994 100% .

TIPIN 934 100% .

TIPRL 872 100% .

TIRAP 1385 100% .

TJAP1 1706 100% .

TJP1 5359 99% .

TJP2 4458 91% .

TJP3 2939 96% .

TK1 733 99% .

TK2 873 90% Mitochondrial DNA Depletion Syndrome, Myopathic Form

TK2 873 90% TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form

TKT 1928 100% .

TKTL1 2087 100% .

TKTL2 1885 100% .

TLCD1 817 96% .

TLCD2 811 55% .

TLE1 2393 99% .

TLE2 2750 94% .

TLE3 2691 97% .

TLE4 2402 100% .

TLE6 2043 93% .

TLK1 2554 100% .

TLK2 2337 100% .

TLL1 3126 100% .

TLL2 3132 100% .

TLN1 7850 100% .

TLN2 7853 100% .

TLR1 2365 100% .

TLR10 4880 100% .

TLR2 2359 100% .

UCLA Health System




Feb 2013

Page 574


TLR3 2731 100% .

TLR4 4967 100% .

TLR5 2581 100% .

TLR6 2395 100% .

TLR7 3158 100% .

TLR8 3134 100% .

TLR9 3107 100% .

TLX1 1013 85% .

TLX1NB 373 69% .

TLX2 867 77% .

TLX3 888 91% .

TM2D1 648 100% .

TM2D2 949 100% .

TM2D3 768 100% .

TM4SF1 629 100% .

TM4SF18 626 100% .

TM4SF19 1005 100% .

TM4SF20 706 100% .

TM4SF4 629 100% .

TM4SF5 614 100% .

TM6SF1 1153 99% .

TM6SF2 1174 92% .

TM7SF2 1297 76% .

TM7SF3 1761 97% .

TM7SF4 1425 100% .

TM9SF1 2205 100% .

TM9SF2 2060 100% .

TM9SF3 1830 94% .

TM9SF4 2001 100% .

TMBIM1 980 86% .

TMBIM4 745 86% .

TMBIM6 1018 99% .

TMC1 2363 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

UCLA Health System




Feb 2013

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TMC1 2363 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

TMC1 2363 100% DFNB 7/11 Nonsyndromic Hearing Loss and Deafness

TMC1 2363 100% DFNA36 Nonsyndromic Hearing Loss and Deafness

TMC2 2801 94% .

TMC3 3391 100% .

TMC4 2435 89% .

TMC5 3415 100% .

TMC6 2494 81% .

TMC7 2389 97% .

TMC8 2241 86% .

TMCC1 2558 100% .

TMCC2 2694 99% .

TMCC3 1450 94% .

TMCO1 677 100% .

TMCO2 557 100% .

TMCO3 2082 100% .

TMCO4 1957 100% .

TMCO5A 907 100% .

TMCO6 1530 88% .

TMCO7 3357 100% .

TMED1 700 86% .

TMED10 680 100% .

TMED2 622 100% .

TMED3 666 100% .

TMED4 704 81% .

TMED5 982 100% .

TMED6 739 100% .

TMED7 687 100% .

TMED7-TICAM2 1404 100% .

TMED8 1002 88% .

TMED9 728 87% .

TMEFF1 1183 85% .

TMEFF2 1165 100% .

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Feb 2013

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TMEM100 409 100% .

TMEM101 790 81% .

TMEM102 1535 82% .

TMEM104 1527 100% .

TMEM105 398 97% .

TMEM106A 817 100% .

TMEM106B 853 100% .

TMEM106C 926 100% .

TMEM107 584 100% .

TMEM108 1744 100% .

TMEM109 744 100% .

TMEM11 587 100% .

TMEM110 917 83% .

TMEM110-MUSTN1 1165 87% .

TMEM111 818 100% .

TMEM114 379 0% .

TMEM115 1064 96% .

TMEM116 1163 100% .

TMEM117 1573 100% .

TMEM119 856 98% .

TMEM120A 1080 90% .

TMEM120B 1068 100% .

TMEM121 964 33% .

TMEM123 647 93% .

TMEM125 664 99% .

TMEM126A 802 100% Optic Atrophy Type 7

TMEM126B 864 96% .

TMEM127 729 86% TMEM127-Related Susceptibility to Pheochromocytoma

TMEM128 442 100% .

TMEM129 1358 32% .

TMEM130 1533 94% .

TMEM131 5816 97% .

TMEM132A 3322 91% .

UCLA Health System




Feb 2013

Page 577


TMEM132B 3273 100% .

TMEM132C 3363 79% .

TMEM132D 3336 98% .

TMEM132E 2995 96% .

TMEM133 394 100% .

TMEM134 710 52% .

TMEM135 1437 100% .

TMEM136 2710 100% .

TMEM138 505 100% Joubert Syndrome and Related Disorders

TMEM138 505 100% TMEM138-Related Joubert Syndrome

TMEM139 1069 100% .

TMEM140 562 100% .

TMEM141 347 81% .

TMEM143 1412 93% .

TMEM144 1082 100% .

TMEM145 1542 91% .

TMEM146 2485 100% .

TMEM147 703 100% .

TMEM14A 316 100% .

TMEM14B 365 100% .

TMEM14C 359 100% .

TMEM14E 382 100% .

TMEM150A 844 100% .

TMEM150B 726 99% .

TMEM150C 778 100% .

TMEM151A 1415 62% .

TMEM151B 1713 28% .

TMEM154 580 96% .

TMEM155 405 98% .

TMEM156 915 100% .

TMEM158 907 20% .

TMEM159 502 100% .

TMEM160 579 21% .

UCLA Health System




Feb 2013

Page 578


TMEM161A 1488 82% .

TMEM161B 1512 100% .

TMEM163 902 77% .

TMEM164 989 100% .

TMEM165 999 84% Congenital Disorders of Glycosylation

TMEM165 999 84% TMEM165-CDG (CDG-IIk)

TMEM167A 235 100% .

TMEM167B 237 96% .

TMEM168 2110 100% .

TMEM169 902 100% .

TMEM17 613 100% .

TMEM170A 447 99% .

TMEM170B 411 77% .

TMEM171 1184 100% .

TMEM173 1164 100% .

TMEM174 740 100% .

TMEM175 1555 100% .

TMEM176A 732 99% .

TMEM176B 837 100% .

TMEM177 940 100% .

TMEM178 1052 91% .

TMEM179 606 85% .

TMEM179B 680 89% .

TMEM18 443 97% .

TMEM180 1586 100% .

TMEM181 1907 87% .

TMEM182 710 100% .

TMEM183A 1163 92% .

TMEM183B 1163 92% .

TMEM184A 1274 98% .

TMEM184B 1426 97% .

TMEM184C 1357 100% .

TMEM185A 1081 45% .

UCLA Health System




Feb 2013

Page 579


TMEM186 650 100% .

TMEM187 790 93% .

TMEM188 457 93% .

TMEM189 933 86% .

TMEM189-UBE2V1 1145 89% .

TMEM19 1035 100% .

TMEM190 554 82% .

TMEM192 840 100% .

TMEM194A 1595 100% .

TMEM194B 1290 92% .

TMEM196 535 80% .

TMEM198 1099 94% .

TMEM199 651 100% .

TMEM2 4244 100% .

TMEM200A 1480 100% .

TMEM200B 928 58% .

TMEM200C 1870 54% .

TMEM201 2291 90% .

TMEM202 842 100% .

TMEM203 415 98% .

TMEM204 693 100% .

TMEM205 582 100% .

TMEM206 1272 85% .

TMEM207 461 100% .

TMEM208 546 100% .

TMEM209 1746 100% .

TMEM211 398 100% .

TMEM212 601 100% .

TMEM213 336 96% .

TMEM214 2138 93% .

TMEM215 712 100% .

TMEM216 584 75% Meckel Syndrome


UCLA Health System




Feb 2013

Page 580


TMEM216 584 75% TMEM216-Related Meckel Syndrome


TMEM217 1315 100% .

TMEM218 360 100% .

TMEM219 739 100% .

TMEM22 1243 100% .

TMEM220 507 85% .

TMEM221 888 33% .

TMEM222 651 86% .

TMEM223 617 84% .

TMEM225 694 100% .

TMEM229A 1147 59% .

TMEM229B 508 91% .

TMEM231 2025 97% .

TMEM232 2026 56% .

TMEM233 342 0% .

TMEM234 443 100% .

TMEM235 1197 16% .

TMEM236 2144 4% .



TMEM238 535 0% .

TMEM239 463 70% .

TMEM240 538 68% .

TMEM241 951 100% .

TMEM242 442 100% .

TMEM25 1260 91% .

TMEM26 1131 100% .

TMEM27 693 98% .

TMEM30A 1114 100% .

TMEM30B 1060 76% .

TMEM31 589 100% .

TMEM33 772 99% .

UCLA Health System




Feb 2013

Page 581


TMEM35 512 100% .

TMEM37 581 96% .

TMEM38A 924 100% .

TMEM38B 900 100% .

TMEM39A 1499 100% .

TMEM39B 1515 98% .

TMEM40 746 100% .

TMEM41A 815 92% .

TMEM41B 1069 96% .

TMEM42 492 62% .

TMEM43 1251 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

TMEM43 1251 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5

TMEM44 1784 67% .

TMEM45A 848 100% .

TMEM45B 848 99% .

TMEM47 558 61% .

TMEM48 2276 97% .

TMEM5 1356 100% .

TMEM50A 498 100% .

TMEM50B 501 100% .

TMEM51 770 100% .

TMEM52 650 72% .

TMEM53 846 100% .

TMEM54 693 80% .

TMEM55A 802 100% .

TMEM55B 1050 73% .

TMEM56 816 100% .

TMEM56-RWDD3 1097 91% .

TMEM57 2039 100% .

TMEM59 1004 100% .

TMEM59L 1061 77% .

TMEM60 406 100% .

TMEM61 645 98% .

UCLA Health System




Feb 2013

Page 582


TMEM62 1988 91% .

TMEM63A 2512 97% .

TMEM63B 2591 100% .

TMEM63C 2509 100% .

TMEM64 1155 69% .

TMEM65 751 68% .

TMEM66 1044 92% .

TMEM67 3336 100% Meckel Syndrome



TMEM67 3336 100% TMEM67-Related Meckel Syndrome

TMEM67 3336 100% Nephronophthisis11

TMEM68 790 100% .

TMEM69 752 100% .

TMEM70 921 92% Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2

TMEM71 1101 100% .

TMEM72 848 91% .

TMEM74 922 100% .

TMEM74B 779 100% .

TMEM79 1197 100% .

TMEM80 625 69% .

TMEM81 772 100% .

TMEM82 1056 94% .

TMEM85 572 84% .

TMEM86A 735 97% .

TMEM86B 693 72% .

TMEM87A 1794 100% .

TMEM87B 1744 98% .

TMEM88 488 94% .

TMEM88B 500 8% .

TMEM89 488 100% .

TMEM8A 2368 88% .

TMEM8B 2030 98% .

UCLA Health System




Feb 2013

Page 583


TMEM8C 686 100% .

TMEM9 572 100% .

TMEM91 1208 100% .

TMEM92 500 100% .

TMEM93 337 92% .

TMEM95 583 99% .

TMEM97 543 100% .

TMEM98 705 95% .

TMEM99 781 100% .

TMEM9B 617 92% .

TMF1 3350 100% .

TMIE 487 80% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

TMIE 487 80% DFNB 6 Nonsyndromic Hearing Loss and Deafness

TMIGD1 813 100% .

TMIGD2 987 95% .

TMLHE 1434 79% Epsilon-Trimethyllysine Hydroxylase Deficiency

TMOD1 1116 100% .

TMOD2 1092 100% .

TMOD3 1095 100% .

TMOD4 1074 100% .

TMPO 2925 99% Dilated Cardiomyopathy

TMPO 2925 99% TMPO-Related Dilated Cardiomyopathy

TMPPE 2732 100% .

TMPRSS11A 1438 100% .

TMPRSS11B 1291 100% .

TMPRSS11BNL 334 5% .

TMPRSS11D 1297 100% .

TMPRSS11E 1312 100% .

TMPRSS11F 1357 100% .

TMPRSS12 1067 100% .

TMPRSS13 1933 92% .

TMPRSS15 3160 99% .

TMPRSS2 1721 96% .

UCLA Health System




Feb 2013

Page 584


TMPRSS3 2031 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

TMPRSS3 2031 100% DFNB 8/10 Nonsyndromic Hearing Loss and Deafness

TMPRSS4 1516 100% .

TMPRSS5 1426 98% .

TMPRSS6 2508 89% Iron-Refractory Iron Deficiency Anemia

TMPRSS7 2214 100% .

TMPRSS9 3248 88% .

TMSB10 143 100% .

TMSB15A 146 100% .

TMSB15B 146 100% .

TMSB4X 143 100% .

TMSB4Y 143 100% .

TMTC1 2903 89% .

TMTC2 2559 99% .

TMTC3 2797 100% .

TMTC4 2575 100% .

TMUB1 749 79% .

TMUB2 1549 97% .

TMX1 875 100% .

TMX2 923 100% .

TMX3 1429 98% .

TMX4 1082 83% .

TNC 6714 100% .

TNF 718 100% .

TNFAIP1 975 100% .

TNFAIP2 2009 61% .

TNFAIP3 2405 100% .

TNFAIP6 858 100% .

TNFAIP8 610 98% .

TNFAIP8L1 565 59% .

TNFAIP8L2 559 100% .

TNFAIP8L2-SCNM1 666 100% .

TNFAIP8L3 891 85% .

UCLA Health System




Feb 2013

Page 585


TNFRSF10A 1447 93% .

TNFRSF10B 1911 100% .

TNFRSF10C 800 100% .

TNFRSF10D 1197 100% .

TNFRSF11A 1891 91% Paget Disease of Bone

TNFRSF11A 1891 91% TNFRSF11A- Related Autosomal Recessive Osteopetrosis

TNFRSF11B 1226 98% Paget Disease, Juvenile

TNFRSF12A 406 94% .

TNFRSF13B 902 100% Common Variable Immune Deficiency

TNFRSF13C 567 63% Common Variable Immune Deficiency

TNFRSF14 884 87% .

TNFRSF17 567 100% .

TNFRSF18 1588 84% .

TNFRSF19 1844 100% .

TNFRSF1A 1408 95% Autosomal Dominant Familial Periodic Fever

TNFRSF1A 1408 95% Choriodal Dystrophy, Central Areolar 2

TNFRSF1B 1426 89% .

TNFRSF21 1992 93% .

TNFRSF25 1541 95% .

TNFRSF4 862 65% .

TNFRSF6B 915 89% .

TNFRSF8 2060 91% .

TNFRSF9 796 100% .

TNFSF10 1368 95% .

TNFSF11 974 98% TNFSF11-Related Autosomal Recessive Osteopetrosis

TNFSF12 778 72% .

TNFSF12-TNFSF13 1037 79% .

TNFSF13 1268 100% .

TNFSF13B 882 100% .

TNFSF14 962 99% .

TNFSF15 824 100% .

TNFSF18 612 100% .

TNFSF4 564 100% .

UCLA Health System




Feb 2013

Page 586


TNFSF8 1120 100% .

TNFSF9 777 91% .

TNIK 4215 100% .

TNIP1 2219 100% .

TNIP2 1609 84% .

TNIP3 1128 100% .

TNK1 2203 88% .

TNK2 3600 94% .

TNKS 4092 100% .

TNKS1BP1 5230 98% .

TNKS2 3609 95% .

TNMD 982 99% .

TNN 3972 98% .

TNNC1 510 96% Familial Hypertrophic Cardiomyopathy

TNNC1 510 96% TNNC1-Related Familial Hypertrophic Cardiomyopathy

TNNC1 510 96% TNNC1-Related Dilated Cardiomyopathy

TNNC2 507 98% .

TNNI1 588 100% .

TNNI2 640 99% Arthrogryposis Multiplex Congenita, Distal, Type 2B

TNNI2 640 99% TNNI2-Related Arthrogryposis Multiplex Congenita, Distal, Type 2B

TNNI3 660 85% Familial Hypertrophic Cardiomyopathy

TNNI3 660 85% TNNI3-Related Familial Restrictive Cardiomyopathy

TNNI3 660 85% TNNI3-Related Dilated Cardiomyopathy

TNNI3 660 85% TNNI3-Related Familial Hypertrophic Cardiomyopathy

TNNI3 660 85% Familial Restrictive Cardiomyopathy

TNNI3 660 85% Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, TNNI3-Related

TNNI3K 2608 100% .

TNNT1 1032 90% Nemaline Myopathy

TNNT1 1032 90% TNNT1-Related Nemaline Myopathy

TNNT1 1032 90% Choriodal Dystrophy, Central Areolar 2

TNNT2 1379 98% Familial Hypertrophic Cardiomyopathy

TNNT2 1379 98% Dilated Cardiomyopathy

TNNT2 1379 98% TNNT2-Related Dilated Cardiomyopathy

UCLA Health System




Feb 2013

Page 587


TNNT2 1379 98% TNNT2-Related Familial Hypertrophic Cardiomyopathy

TNNT2 1379 98% Familial Restrictive Cardiomyopathy

TNNT2 1379 98% TNNT2-Related Familial Restrictive Cardiomyopathy

TNNT2 1379 98% Left Ventricular Noncompaction 6

TNNT2 1379 98% Choriodal Dystrophy, Central Areolar 2

TNNT3 923 96% Arthrogryposis Multiplex Congenita, Distal, Type 2B

TNNT3 923 96% TNNT3-Related Arthrogryposis Multiplex Congenita, Distal, Type 2B

TNP1 176 100% .

TNP2 425 100% .

TNPO1 2911 99% .

TNPO2 2896 99% .

TNPO3 2860 100% .

TNR 4161 100% .

TNRC18 9023 69% .

TNRC6A 5989 100% .

TNRC6B 5715 97% .

TNRC6C 7665 98% .

TNS1 5320 98% .

TNS3 4442 100% .

TNS4 2196 100% .

TNXB 15211 82% Ehlers-Danlos Syndrome, Hypermobility Type

TOB1 2084 100% .

TOB2 1039 100% .

TOE1 1599 100% .

TOLLIP 849 87% .

TOM1 1678 96% .

TOM1L1 1491 100% .

TOM1L2 1584 99% .

TOMM20 458 100% .

TOMM20L 479 100% .

TOMM22 445 94% .

TOMM34 958 93% .

TOMM40 1122 76% .

UCLA Health System




Feb 2013

Page 588


TOMM40L 963 100% .

TOMM5 888 100% .

TOMM6 233 99% .

TOMM7 180 100% .

TOMM70A 1875 92% .

TONSL 4241 85% .

TOP1 2382 99% .

TOP1MT 1862 98% .

TOP2A 4736 100% .

TOP2B 5010 99% .

TOP3A 3082 100% .

TOP3B 2657 92% .

TOPBP1 4677 100% .

TOPORS 3150 100% Retinitis Pigmentosa, Autosomal Dominant

TOPORS 3150 100% Retinitis Pigmentosa

TOPORS 3150 100% TOPORS-Related Retinitis Pigmentosa

TOR1A 1019 93% Early-Onset Primary Dystonia (DYT1)

TOR1A 1019 93% Choriodal Dystrophy, Central Areolar 2

TOR1AIP1 1792 98% .

TOR1AIP2 1829 100% .

TOR1B 1031 100% .

TOR2A 2451 89% .

TOR3A 1218 91% .

TOX 1617 100% .

TOX2 1757 94% .

TOX3 2097 95% .

TOX4 1902 100% .

TP53 1782 100% Li-Fraumeni Syndrome

TP53 1782 100% Choriodal Dystrophy, Central Areolar 2

TP53AIP1 670 98% .

TP53BP1 6455 100% .

TP53BP2 3583 100% .

TP53I11 594 88% .

UCLA Health System




Feb 2013

Page 589


TP53I13 1210 84% .

TP53I3 1206 100% .

TP53INP1 761 100% .

TP53INP2 675 97% .

TP53RK 770 82% .

TP53TG3 1149 0% .

TP53TG3B 2247 0% .

TP53TG3C 2247 0% .

TP53TG5 893 100% .

TP63 2565 100% Ectrodactyly

TP63 2565 100% Cleft Lip +/- Cleft Palate

TP63 2565 100% Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome

TP63 2565 100% Split-Hand/Foot Malformation, Type 4

TP63 2565 100% Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

TP63 2565 100% Limb-Mammary Syndrome

TP63 2565 100% ADULT Syndrome

TP63 2565 100% TP63-Related Disorders

TP63 2565 100% Orofacial Cleft 8

TP63 2565 100% Rapp-Hodgkin Syndrome

TP73 2688 90% .

TPBG 1267 96% .

TPCN1 3020 97% .

TPCN2 2359 92% .

TPD52 799 100% .

TPD52L1 896 99% .

TPD52L2 1126 98% .

TPD52L3 938 100% .

TPGS1 881 17% .

TPGS2 931 100% .

TPH1 1375 100% .

TPH2 1517 100% Tryptophan Hydroxylase Deficiency

TPI1 1119 97% Triosephosphate Isomerase Deficiency

TPI1 1119 97% Choriodal Dystrophy, Central Areolar 2

UCLA Health System




Feb 2013

Page 590


TPK1 764 100% .

TPM1 1497 82% Familial Hypertrophic Cardiomyopathy

TPM1 1497 82% Dilated Cardiomyopathy

TPM1 1497 82% TPM1-Related Dilated Cardiomyopathy

TPM1 1497 82% TPM1-Related Familial Hypertrophic Cardiomyopathy

TPM1 1497 82% Choriodal Dystrophy, Central Areolar 2

TPM2 1058 96% Arthrogryposis Multiplex Congenita, Distal, Type 1

TPM2 1058 96% Nemaline Myopathy

TPM2 1058 96% TPM2-Related Nemaline Myopathy

TPM2 1058 96% TPM2-Related Arthrogryposis Multiplex Congenita, Distal, Type 2B


TPM3 1285 100% Nemaline Myopathy

TPM3 1285 100% Congenital Fiber-Type Disproportion

TPM3 1285 100% TPM3-Related Congenital Fiber-Type Disproportion

TPM3 1285 100% TPM3-Related Nemaline Myopathy


TPM4 1027 83% .

TPMT 770 100% .

TPO 2866 89% Congenital Hypothyroidism, TPO-Related

TPO 2866 89% Congenital Hypothyroidism

TPP1 1744 100% Neuronal Ceroid-Lipofuscinosis, Juvenile

TPP1 1744 100% Neuronal Ceroid-Lipofuscinosis, Classic Late Infantile

TPP1 1744 100% Neuronal Ceroid-Lipofuscinoses

TPP1 1744 100% TPP1-Related Neuronal Ceroid-Lipofuscinosis

TPP2 3866 100% .

TPPP 672 100% .

TPPP2 525 100% .

TPPP3 543 100% .

TPR 7296 100% .

TPRA1 1434 99% .

TPRG1 848 100% .

TPRG1L 839 69% .

TPRKB 544 100% .

UCLA Health System




Feb 2013

Page 591


TPRN 2152 54% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

TPRN 2152 54% DFNB79 Nonsyndromic Hearing Loss and Deafness

TPRX1 1244 48% .

TPSAB1 848 88% .

TPSB2 1120 49% .

TPSD1 749 98% .

TPSG1 990 79% .

TPST1 1129 100% .

TPST2 1150 98% .

TPT1 543 100% .

TPTE 1740 100% .

TPTE2 1649 100% .

TPX2 2308 100% .

TRA2A 881 98% .

TRA2B 1070 100% .

TRABD 1167 90% .

TRADD 955 89% .

TRAF1 1694 100% .

TRAF2 1546 100% .

TRAF3 1747 100% .

TRAF3IP1 2144 92% .

TRAF3IP2 2065 100% .

TRAF3IP3 1716 100% .

TRAF4 1441 100% .

TRAF5 1714 100% .

TRAF6 1593 100% .

TRAF7 2093 92% .

TRAFD1 1793 100% .

TRAIP 1470 100% .

TRAK1 3809 100% .

TRAK2 2805 100% .

TRAM1 1169 100% .

TRAM1L1 1114 100% .

UCLA Health System




Feb 2013

Page 592


TRAM2 1157 100% .

TRANK1 8870 100% .

TRAP1 2187 95% .

TRAPPC1 454 100% .

TRAPPC10 3872 98% TRAPPC10-Related Holoprosencephaly

TRAPPC11 3911 100% .

TRAPPC12 2252 96% .

TRAPPC2 661 87% Spondyloepiphyseal Dysplasia Tarda, X-Linked

TRAPPC2 661 87% Choriodal Dystrophy, Central Areolar 2

TRAPPC2L 443 87% .

TRAPPC3 563 100% .

TRAPPC4 680 100% .

TRAPPC5 571 85% .

TRAPPC6A 546 77% .

TRAPPC6B 501 100% .

TRAPPC8 4424 100% .

TRAPPC9 4431 91% Mental Retardation, Nonsyndromic

TRAT1 585 100% .

TRDMT1 1220 94% .

TRDN 2739 96% Catecholaminergic Polymorphic Ventricular Tachycardia

TRDN 2739 96% TRDN-Related Catecholaminergic Polymorphic Ventricular Tachycardia

TREH 1811 94% .

TREM1 1028 100% .

TREM2 713 100% Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

TREM2 713 100% TREM2-Related Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

TREML1 960 100% .

TREML2 986 98% .

TREML4 623 100% .

TRERF1 3659 99% .

TREX1 2228 100% Aicardi-Goutieres Syndrome

TREX1 2228 100% Retinal Vasculopathy with Cerebral Leukodystrophy

TREX1 2228 100% TREX1-Related Aicardi-Goutieres Syndrome

TREX2 715 41% .

UCLA Health System




Feb 2013

Page 593


TRH 737 100% .

TRHDE 3151 99% .

TRHR 1205 100% .

TRIAP1 239 100% .

TRIB1 1131 68% .

TRIB2 1044 100% .

TRIB3 1089 100% .

TRIL 4880 66% .

TRIM10 2084 100% .

TRIM11 1431 84% .

TRIM13 2475 100% .

TRIM14 1353 97% .

TRIM15 1426 94% .

TRIM16 1719 97% .

TRIM16L 1063 100% .

TRIM17 1864 100% .

TRIM2 2553 100% .

TRIM21 1452 100% .

TRIM22 1760 100% .

TRIM23 2263 100% .

TRIM24 3502 97% .

TRIM25 1929 95% .

TRIM26 1648 100% .

TRIM27 1574 99% .

TRIM28 2576 87% .

TRIM29 1803 100% .

TRIM3 2515 100% .

TRIM31 1310 100% .

TRIM32 1966 100% Bardet-Biedl Syndrome

TRIM32 1966 100% Limb-Girdle Muscular Dystrophies, Autosomal Recessive

TRIM32 1966 100% Limb-Girdle Muscular Dystrophy Type 2H

TRIM32 1966 100% TRIM32-Related Bardet-Biedl Syndrome

TRIM33 3464 85% .

UCLA Health System




Feb 2013

Page 594


TRIM34 1679 100% .

TRIM35 1506 93% .

TRIM36 2478 100% .

TRIM37 3086 100% Mulibrey Nanism

TRIM38 1422 100% .

TRIM39 1585 100% .

TRIM39-RPP21 1946 100% .

TRIM4 1531 88% .

TRIM40 710 100% .

TRIM41 2621 97% .

TRIM42 2192 100% .

TRIM43 1365 68% .

TRIM43B 1365 55% .

TRIM44 1055 100% .

TRIM45 2505 100% .

TRIM46 2320 97% .

TRIM47 1941 66% .

TRIM48 695 100% .

TRIM49 1383 92% .

TRIM49L1 2766 7% .

TRIM49L2 1383 88% .

TRIM5 1929 95% .

TRIM50 1488 80% .

TRIM52 902 100% .

TRIM54 1239 86% .

TRIM55 1906 100% .

TRIM56 2272 88% .

TRIM58 1485 84% .

TRIM59 1216 100% .

TRIM6 2312 100% .

TRIM60 1420 100% .

TRIM61 638 83% .

TRIM62 1448 93% .

UCLA Health System




Feb 2013

Page 595


TRIM63 1098 100% .

TRIM64 1374 39% .

TRIM64B 1374 100% .

TRIM65 1578 61% .

TRIM66 3727 98% .

TRIM67 2392 90% .

TRIM68 1482 100% .

TRIM69 1531 93% .

TRIM6-TRIM34 2625 100% .

TRIM7 2446 82% .

TRIM71 2623 87% .

TRIM72 1458 63% .

TRIM73 769 66% .

TRIM74 769 66% .

TRIM77P 1377 64% .

TRIM8 1680 100% .

TRIM9 2416 100% .

TRIML1 1431 100% .

TRIML2 1192 100% .

TRIO 9522 96% .

TRIOBP 7484 89% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

TRIOBP 7484 89% DFNB28 Nonsyndromic Hearing Loss and Deafness

TRIP10 1694 100% .

TRIP11 6024 100% Achondrogenesis Type IA

TRIP12 6139 100% .

TRIP13 1470 95% .

TRIP4 1798 94% .

TRIP6 1467 93% .

TRIT1 1448 100% .

TRMT1 2044 96% .

TRMT11 1444 95% .

TRMT112 394 98% .

TRMT12 1351 100% .

UCLA Health System




Feb 2013

Page 596


TRMT1L 2331 100% .

TRMT2A 1926 99% .

TRMT2B 1563 100% .

TRMT5 1550 100% .

TRMT6 1538 100% .

TRMT61A 882 95% .

TRMT61B 1462 100% .

TRMU 1310 93% Liver Failure, Acute Infantile

TRNAU1AP 900 97% .

TRNP1 688 1% .

TRNT1 1333 100% .

TRO 6901 99% .

TROAP 2495 99% .

TROVE2 2059 100% .

TRPA1 3468 100% .

TRPC1 2328 100% .

TRPC3 3590 96% .

TRPC4 5478 100% .

TRPC4AP 2641 95% .

TRPC5 2962 100% .

TRPC6 2848 97% Focal Segmental Glomerulosclerosis

TRPC6 2848 97% Focal Segmental Glomerulosclerosis 2

TRPC7 2637 100% .

TRPM1 5137 100% Congenital Stationary Night Blindness, Type 1C

TRPM2 4640 95% .

TRPM3 5739 100% .

TRPM4 3745 91% Progressive Familial Heart Block, Type IB

TRPM5 3594 78% .

TRPM6 6269 100% Hypomagnesemia with Secondary Hypocalcemia

TRPM7 5754 100% .

TRPM8 3411 100% .

TRPS1 3909 100% Trichorhinophalangeal Syndrome Type I

TRPS1 3909 100% Langer-Giedion Syndrome

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Feb 2013

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TRPS1 3909 100% Trichorhinophalangeal Syndrome Type III

TRPT1 1183 92% .

TRPV1 2580 100% .

TRPV2 2351 98% .

TRPV3 2441 98% .

TRPV4 3456 97% Metatropic Dysplasia

TRPV4 3456 97% Charcot-Marie-Tooth Neuropathy Type 2

TRPV4 3456 97% Charcot-Marie-Tooth Neuropathy Type 2C

TRPV4 3456 97% Brachyolmia Type 3

TRPV4 3456 97% Spondylometaphyseal Dysplasia, Kozlowski Type

TRPV4 3456 97% Scapuloperoneal Spinal Muscular Atrophy

TRPV4 3456 97% Distal Congenital Nonprogressive Spinal Muscular Atrophy

TRPV4 3456 97% Brachyolmia Type 2

TRPV5 2250 100% .

TRPV6 2238 100% .

TRRAP 11973 100% .

TRUB1 1082 97% .

TRUB2 1028 100% .

TSC1 3705 100% Tuberous Sclerosis Complex

TSC1 3705 100% Tuberous Sclerosis 1

TSC1 3705 100% Choriodal Dystrophy, Central Areolar 2

TSC2 5757 93% Tuberous Sclerosis Complex

TSC2 5757 93% Tuberous Sclerosis 2

TSC2 5757 93% Choriodal Dystrophy, Central Areolar 2

TSC22D1 6335 98% .

TSC22D2 2359 95% .

TSC22D3 797 99% .

TSC22D4 1204 86% .

TSEN15 593 79% .

TSEN2 2690 100% Pontocerebellar Hypoplasia Type 2 and Type 4

TSEN2 2690 100% TSEN2-Related Pontocerebellar Hypoplasia



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Feb 2013

Page 598




TSFM 1561 91% Combined Oxidative Phosphorylation Deficiency

TSFM 1561 91% Combined Oxidative Phosphorylation Deficiency 3

TSG101 1213 100% .

TSGA10 2161 100% .

TSGA10IP 1703 100% .

TSGA13 856 100% .

TSHB 425 100% Congenital Hypothyroidism, Nongoitrous 4

TSHR 2609 100% Hyperthyroidism, Nonautoimmune

TSHR 2609 100% Hyperthyroidism, Nonautoimmune (316270)

TSHR 2609 100% Congenital Hypothyroidism, Nongoitrous 1

TSHR 2609 100% Congenital Hypothyroidism

TSHR 2609 100% Choriodal Dystrophy, Central Areolar 2

TSHZ1 3103 100% Congenital Aural Atresia

TSHZ2 3148 97% .

TSHZ3 3254 99% .

TSKS 1823 99% .

TSKU 1066 95% .

TSLP 635 100% .

TSN 711 100% .

TSNARE1 1590 96% .

TSNAX 897 100% .

TSNAXIP1 2033 100% .

TSPAN1 754 100% .

TSPAN10 1080 88% .

TSPAN11 790 99% .

TSPAN12 946 100% Familial Exudative Vitreoretinopathy, Autosomal Dominant

TSPAN12 946 100% TSPAN12-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant

TSPAN13 639 100% .

TSPAN14 845 91% .

TSPAN15 917 88% .

TSPAN16 766 93% .

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Feb 2013

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TSPAN17 1347 99% .

TSPAN18 775 100% .

TSPAN19 779 94% .

TSPAN2 698 90% .

TSPAN3 790 91% .

TSPAN31 657 98% .

TSPAN32 1003 96% .

TSPAN33 884 91% .

TSPAN4 941 97% .

TSPAN5 839 100% .

TSPAN6 766 100% .

TSPAN7 778 97% X-Linked Mental Retardation 58

TSPAN8 746 100% .

TSPAN9 748 82% .

TSPEAR 2058 96% .

TSPO 1018 51% .

TSPO2 525 100% .

TSPY1 1059 96% .

TSPY2 951 67% .

TSPY3 1902 23% .

TSPY4 4072 15% .

TSPY8 241 65% .

TSPYL1 1318 100% .

TSPYL2 2110 86% .

TSPYL4 1249 100% .

TSPYL5 1258 95% .

TSPYL6 1237 100% .

TSR1 2475 100% .

TSR2 596 82% .

TSSC1 1200 95% .

TSSC4 994 92% .

TSSK1B 1108 100% .

TSSK2 1081 100% .

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Feb 2013

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TSSK3 815 100% .

TSSK4 1431 100% .

TSSK6 826 100% .

TST 902 90% .

TSTA3 1006 94% .

TSTD1 599 89% .

TSTD2 1587 100% .

TTBK1 4022 77% .

TTBK2 3791 100% Spinocerebellar Ataxia Type11

TTC1 907 100% .

TTC12 2202 100% .

TTC13 2789 90% .

TTC14 2543 100% .

TTC16 2678 99% .

TTC17 3522 99% .

TTC18 3474 98% .

TTC19 1546 68% Mitochondrial Respiratory Chain Complex III Deficiency, TTC19-Related

TTC21A 4357 100% .

TTC21B 4067 100% Joubert Syndrome and Related Disorders

TTC21B 4067 100% Asphyxiating Thoracic Dystrophy

TTC21B 4067 100% Asphyxiating Thoracic Dystrophy 4

TTC21B 4067 100% TTC21B-Related Joubert Syndrome

TTC22 1841 63% .

TTC23 1384 100% .

TTC23L 1122 100% .

TTC24 1789 81% .

TTC25 1871 100% .

TTC26 1853 100% .

TTC27 2794 97% .

TTC28 7538 89% .

TTC29 1472 100% .

TTC3 6258 100% .

TTC30A 2002 100% .

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Feb 2013

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TTC30B 2002 100% .

TTC31 1612 96% .

TTC32 468 100% .

TTC33 805 100% .

TTC35 938 100% .

TTC36 582 55% .

TTC37 4855 100% .

TTC38 1466 98% .

TTC39A 1866 94% .

TTC39B 2460 96% .

TTC39C 1861 91% .

TTC4 1204 100% .

TTC40 1254 96% .

TTC5 1363 100% .

TTC7A 2657 93% .

TTC7B 2612 100% .

TTC8 1608 100% Retinitis Pigmentosa, Autosomal Recessive

TTC8 1608 100% Bardet-Biedl Syndrome

TTC8 1608 100% Retinitis Pigmentosa

TTC8 1608 100% TTC8-Related Bardet-Biedl Syndrome

TTC8 1608 100% TTC8-Related Retinitis Pigmentosa

TTC9 681 63% .

TTC9B 732 85% .

TTC9C 528 100% .

TTF1 2986 100% .

TTF2 3581 100% .

TTI1 3298 100% .

TTI2 1555 100% .

TTK 2799 100% .

TTL 1162 100% .

TTLL1 1308 100% .

TTLL10 2596 69% .

TTLL11 3175 75% .

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Feb 2013

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TTLL12 1991 86% .

TTLL13 1416 100% .

TTLL2 1791 98% .

TTLL3 2800 85% .

TTLL4 3672 100% .

TTLL5 3970 100% .

TTLL6 2817 100% .

TTLL7 2744 100% .

TTLL9 1376 100% .

TTN 111719 100% Familial Hypertrophic Cardiomyopathy

TTN 111719 100% Dilated Cardiomyopathy

TTN 111719 100% Limb-Girdle Muscular Dystrophies, Autosomal Recessive

TTN 111719 100% Udd Distal Myopathy

TTN 111719 100% TTN-Related Familial Hypertrophic Cardiomyopathy

TTN 111719 100% TTN-Related Dilated Cardiomyopathy

TTN 111719 100% Limb-Girdle Muscular Dystrophy Type 2J

TTN 111719 100% Salih Myopathy

TTN 111719 100% Hereditary Myopathy with Early Respiratory Failure

TTN 111719 100% Salih Myopathy (319528)

TTN 111719 100% Choriodal Dystrophy, Central Areolar 2

TTPA 857 81% Ataxia with Vitamin E Deficiency

TTPAL 1045 100% .

TTR 460 100% Familial Transthyretin Amyloidosis

TTR 460 100% Choriodal Dystrophy, Central Areolar 2

TTYH1 1655 81% .

TTYH2 1758 100% .

TTYH3 1628 60% .

TUB 1780 97% .

TUBA1A 1372 100% Lissencephaly 3

TUBA1B 1372 100% .

TUBA1C 1366 100% .

TUBA3C 1373 100% .

TUBA3D 1373 100% .

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Feb 2013

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TUBA3E 1373 100% .

TUBA4A 1363 99% .

TUBA8 1597 100% Polymicrogyria with Optic Nerve Hypoplasia

TUBAL3 1605 100% .

TUBB 1351 100% .

TUBB1 1372 100% .

TUBB2A 1354 90% .

TUBB2B 1354 91% Polymicrogyria, Asymmetric

TUBB3 1484 100% Congenital Fibrosis of the Extraocular Muscles

TUBB3 1484 100% TUBB3-Related Congenital Fibrosis of the Extraocular Muscles

TUBB3 1484 100% Cortical Dysplasia, Complex, with Other Brain Malformations

TUBB4A 1351 100% .

TUBB4B 1354 100% .

TUBB6 1357 100% .

TUBB8 1351 100% .

TUBD1 2022 100% .

TUBE1 1476 93% .

TUBG1 1400 96% .

TUBG2 1400 96% .

TUBGCP2 2777 96% .

TUBGCP3 2812 100% .

TUBGCP4 2073 100% .

TUBGCP5 3366 99% .

TUBGCP6 5560 96% .

TUFM 1408 98% Combined Oxidative Phosphorylation Deficiency

TUFM 1408 98% Combined Oxidative Phosphorylation Deficiency 4 (319007)

TUFM 1408 98% Combined Oxidative Phosphorylation Deficiency 4

TUFT1 1225 91% .

TULP1 1689 85% Retinitis Pigmentosa, Autosomal Recessive

TULP1 1689 85% Leber Congenital Amaurosis

TULP1 1689 85% Retinitis Pigmentosa

TULP1 1689 85% TULP1-Related Retinitis Pigmentosa

TULP1 1689 85% TULP1-Related Leber Congenital Amaurosis

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Feb 2013

Page 604


TULP2 1611 100% .

TULP3 1712 86% .

TULP4 4809 99% .

TUSC1 643 44% .

TUSC2 345 58% .

TUSC3 1107 100% Congenital Disorders of Glycosylation

TUSC3 1107 100% TUSC3-CDG

TUSC5 546 100% .

TUT1 2775 100% .

TWF1 1191 89% .

TWF2 1086 98% .

TWIST1 613 63% Saethre-Chotzen Syndrome

TWIST1 613 63% TWIST1-Related Craniosynostosis

TWIST1 613 63% Choriodal Dystrophy, Central Areolar 2

TWIST2 487 35% .

TWISTNB 1033 100% .

TWSG1 688 100% .

TXK 1644 100% .

TXLNA 1681 96% .

TXLNB 2091 100% .

TXLNG 1627 93% .

TXN 338 98% .

TXN2 513 100% .

TXNDC11 2925 94% .

TXNDC12 547 100% .

TXNDC15 1103 100% .

TXNDC16 2680 100% .

TXNDC17 388 100% .

TXNDC2 3227 100% .

TXNDC3 1827 100% .

TXNDC5 1493 84% .

TXNDC8 372 100% .

TXNDC9 697 100% .

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TXNIP 1208 100% .

TXNL1 902 100% .

TXNL4A 441 98% .

TXNL4B 462 100% .

TXNRD1 2159 94% .

TXNRD2 1643 86% .

TXNRD3 1996 90% .

TXNRD3NB 410 100% .

TYK2 3656 94% Familial Atypical Mycobacteriosis, TYK2-Related

TYMP 1485 67% Mitochondrial Neurogastrointestinal Encephalopathy Disease

TYMS 1270 74% .

TYR 1610 100% Oculocutaneous Albinism Type 1

TYR 1610 100% Choriodal Dystrophy, Central Areolar 2

TYRO3 2749 93% .

TYROBP 413 98% Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

TYROBP 413 98% TYROBP-Related Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

TYROBP 413 98% Choriodal Dystrophy, Central Areolar 2

TYRP1 1642 100% Oculocutaneous Albinism Type 3

TYRP1 1642 100% Choriodal Dystrophy, Central Areolar 2

TYSND1 1939 63% .

TYW1 2263 100% .

TYW1B 2308 95% .

TYW3 804 100% .

TYW5 980 100% .

U2AF1 880 100% .

U2AF1L4 1039 100% .

U2AF2 1579 99% .

U2SURP 3202 100% .

UACA 4370 98% .

UAP1 1554 100% .

UAP1L1 1560 73% .

UBA1 3277 96% Spinal Muscular Atrophy, X-Linked Infantile

UBA2 1991 95% .

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UBA3 1464 98% .

UBA5 1313 88% .

UBA52 403 100% .

UBA6 3291 100% .

UBA7 3135 97% .

UBAC1 1258 99% .

UBAC2 1231 100% .

UBAP1 1815 87% .

UBAP1L 1166 0% .

UBAP2 3472 100% .

UBAP2L 3422 100% .

UBASH3A 2188 95% .

UBASH3B 2006 98% .

UBB 694 100% .

UBC 2062 100% .

UBD 506 100% .

UBE2A 577 96% Mental Retardation, X-Linked, Syndromic, Nascimento Type

UBE2B 483 84% .

UBE2C 1171 91% .

UBE2CBP 1210 100% .

UBE2D1 540 95% .

UBE2D2 540 100% .

UBE2D3 559 100% .

UBE2D4 472 100% .

UBE2E1 602 100% .

UBE2E2 626 100% .

UBE2E3 644 100% .

UBE2F 594 100% .

UBE2G1 533 100% .

UBE2G2 695 94% .

UBE2H 624 100% .

UBE2I 501 100% .

UBE2J1 989 99% .

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UBE2J2 901 94% .

UBE2K 631 99% .

UBE2L3 5405 10% .

UBE2L6 669 98% .

UBE2M 576 99% .

UBE2N 475 100% .

UBE2NL 466 100% .

UBE2O 3951 92% .

UBE2Q1 1321 81% .

UBE2Q2 1316 92% .

UBE2QL1 494 100% .

UBE2R2 737 100% .

UBE2S 685 99% .

UBE2T 618 100% .

UBE2U 717 100% .

UBE2V1 650 98% .

UBE2V2 454 100% .

UBE2W 517 96% .

UBE2Z 1093 71% .

UBE3A 2742 100% Angelman Syndrome

UBE3A 2742 100% Choriodal Dystrophy, Central Areolar 2

UBE3B 3311 100% .

UBE3C 3344 100% .

UBE4A 3483 100% .

UBE4B 4021 100% .

UBFD1 958 96% .

UBIAD1 1025 100% Schnyder Crystalline Corneal Dystrophy

UBL3 374 100% .

UBL4A 490 68% .

UBL4B 529 100% .

UBL5 238 100% .

UBL7 1183 93% .

UBLCP1 997 100% .

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UBN1 3473 100% .

UBN2 4116 92% .

UBOX5 1642 100% .

UBP1 1687 99% .

UBQLN1 1814 97% .

UBQLN2 1879 94% Amyotrophic Lateral Sclerosis

UBQLN2 1879 94% UBQLN2-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

UBQLN3 1972 100% .

UBQLN4 1850 95% .

UBQLNL 1432 100% .

UBR1 5438 100% .

UBR2 5602 99% .

UBR3 5823 95% .

UBR4 15976 100% .

UBR5 8636 99% .

UBR7 1322 86% .

UBTD1 696 89% .

UBTD2 717 90% .

UBTF 2375 99% .

UBTFL1 1186 97% .

UBXN1 971 99% .

UBXN10 847 100% .

UBXN11 1619 96% .

UBXN2A 804 100% .

UBXN2B 1028 91% .

UBXN4 1579 100% .

UBXN6 1538 97% .

UBXN7 1514 100% .

UBXN8 844 100% .

UCHL1 708 85% Parkinson Disease

UCHL3 729 100% .

UCHL5 1208 100% .

UCK1 1048 89% .

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UCK2 814 92% .

UCKL1 1779 87% .

UCMA 437 100% .

UCN 379 52% .

UCN2 343 68% .

UCN3 490 100% .

UCP1 948 99% .

UCP2 954 100% .

UCP3 1156 100% .

UEVLD 1636 100% .

UFC1 528 100% .

UFD1L 1137 100% .

UFL1 2461 100% .

UFM1 282 100% .

UFSP1 433 100% .

UFSP2 1458 100% .

UGCG 1221 92% .

UGDH 1734 100% .

UGGT1 4832 99% .

UGGT2 4707 98% .

UGP2 1699 100% .

UGT1A1 1622 100% Gilbert Syndrome

UGT1A1 1622 100% Crigler-Najjar Syndrome

UGT1A1 1622 100% Transient Familial Neonatal Hyperbilirubinemia

UGT1A10 1613 100% .

UGT1A3 1625 100% .

UGT1A4 1625 100% .

UGT1A5 1625 100% .

UGT1A6 2484 100% .

UGT1A7 1613 100% .

UGT1A8 1613 100% .

UGT1A9 1613 100% .

UGT2A1 2330 100% .

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UGT2A2 1611 100% .

UGT2A3 1608 100% .

UGT2B10 4598 100% .

UGT2B11 1614 100% .

UGT2B15 1617 100% .

UGT2B17 1617 88% .

UGT2B28 1898 100% .

UGT2B4 1611 100% .

UGT2B7 1614 100% .

UGT3A1 1788 100% .

UGT3A2 1600 100% .

UGT8 1646 100% .

UHMK1 1493 97% .

UHRF1 2680 99% .

UHRF1BP1 4407 99% .

UHRF1BP1L 4503 100% .

UHRF2 2473 100% .

UIMC1 2216 100% .

ULBP1 751 100% .

ULBP2 757 100% .

ULBP3 751 100% .

ULK1 3265 94% .

ULK2 3219 100% .

ULK3 1483 71% .

ULK4 3972 100% .

UMOD 1963 87% Familial Juvenile Hyperuricemic Nephropathy Type 1

UMOD 1963 87% UMOD-Associated Kidney Disease

UMODL1 6342 96% .

UMPS 1467 100% Orotic Aciduria

UMPS 1467 100% Choriodal Dystrophy, Central Areolar 2

UNC119 1026 90% UNC119-Related Cone-Rod Dystrophy

UNC119B 776 68% .

UNC13A 5280 94% .

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UNC13B 4932 99% .

UNC13C 6769 100% .

UNC13D 3401 86% Familial Hemophagocytic Lymphohistiocytosis

UNC13D 3401 86% Familial Hemophagocytic Lymphohistiocytosis 3

UNC45A 2970 96% .

UNC45B 3024 100% .

UNC50 800 100% .

UNC5A 2589 97% .

UNC5B 2906 97% .

UNC5C 2860 100% .

UNC5CL 1589 100% .

UNC5D 2930 96% .

UNC79 7565 100% .

UNC80 10184 98% .

UNC93A 1406 100% .

UNC93B1 1837 77% .

UNCX 1608 31% .

UNG 1391 93% Immunodeficiency with Hyper-IgM, Type 5

UNK 2650 99% .

UNKL 2851 56% .

UPB1 1195 100% Beta-Ureidopropionase Deficiency

UPF1 3449 99% .

UPF2 3903 100% .

UPF3A 1471 81% .

UPF3B 1496 99% Mental Retardation, X-linked, Syndromic 14

UPK1A 805 99% .

UPK1B 811 100% .

UPK2 575 100% .

UPK3A 888 94% UPK3A-Related Renal Adysplasia

UPK3B 2082 83% .

UPK3BL 816 10% .

UPP1 961 100% .

UPP2 1251 93% .

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Feb 2013

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UPRT 958 99% .

UQCC 940 100% .

UQCR10 432 100% .

UQCR11 179 80% .

UQCRB 605 100% Mitochondrial Respiratory Chain Complex III Deficiency, UQCRB-Related

UQCRC1 1495 95% .

UQCRC2 1418 100% .

UQCRFS1 833 74% .

UQCRH 292 100% .

UQCRHL 280 100% .

UQCRQ 257 100% Mitochondrial Respiratory Chain Complex III Deficiency, UQCRQ Related

URB1 6972 83% .

URB2 4611 100% .

URGCP 2875 99% .

URGCP-MRPS24 380 76% .

URI1 1652 95% .

URM1 787 100% .

UROC1 2394 95% .

UROD 1144 100% Porphyria Cutanea Tarda

UROD 1144 100% Choriodal Dystrophy, Central Areolar 2

UROS 834 100% Congenital Erythropoietic Porphyria

UROS 834 100% Choriodal Dystrophy, Central Areolar 2

USE1 812 91% .

USF1 1079 100% .

USF2 1081 66% .

USH1C 2935 97% Usher Syndrome Type 1

USH1C 2935 97% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

USH1C 2935 97% Usher Syndrome Type 1C

USH1C 2935 97% DFNB18 Nonsyndromic Hearing Loss and Deafness

USH1G 1398 88% Usher Syndrome Type 1

USH1G 1398 88% Usher Syndrome Type 1G

USH2A 16156 100% Retinitis Pigmentosa, Autosomal Recessive

USH2A 16156 100% Usher Syndrome Type 2

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USH2A 16156 100% Retinitis Pigmentosa

USH2A 16156 100% Usher Syndrome Type 2A

USH2A 16156 100% USH2A-Related Retinitis Pigmentosa

USHBP1 2160 95% .

USMG5 185 100% .

USO1 2826 100% .

USP1 2390 100% .

USP10 2453 99% .

USP11 2976 97% .

USP12 1149 99% .

USP13 2676 95% .

USP14 1549 100% .

USP15 2943 97% .

USP16 2732 100% .

USP17 14373 19% .

USP17L2 1597 94% .

USP17L5 6388 3% .

USP18 1159 96% .

USP19 4854 98% .

USP2 2017 88% .

USP20 2837 94% .

USP21 1746 100% .

USP22 1630 97% .

USP24 8135 98% .

USP25 3264 98% .

USP26 2746 100% .

USP27X 1321 100% .

USP28 3334 98% .

USP29 2773 100% .

USP3 1623 100% .

USP30 1606 99% .

USP31 4123 90% .

USP32 4951 100% .

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Feb 2013

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USP33 3297 99% .

USP34 10961 100% .

USP35 3097 85% .

USP36 3444 100% .

USP37 3032 100% .

USP38 3169 100% .

USP39 1750 94% .

USP4 2980 100% .

USP40 3868 93% .

USP42 4015 97% .

USP43 3432 86% .

USP44 2159 100% .

USP45 2513 100% .

USP46 1156 97% .

USP47 3972 99% .

USP48 3386 96% .

USP49 1939 100% .

USP5 2853 100% .

USP50 1033 100% .

USP51 2140 92% .

USP53 3282 100% .

USP54 5143 100% .

USP6 4337 100% .

USP6NL 2602 100% .

USP7 3433 98% .

USP8 3433 100% .

USP9X 8154 100% .

USP9Y 7844 100% Y Chromosome Infertility

USP9Y 7844 100% Choriodal Dystrophy, Central Areolar 2

USPL1 3311 100% .

UST 1253 93% .

UTF1 1034 18% .

UTP11L 794 100% .

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UTP14A 2376 100% .

UTP14C 2305 100% .

UTP15 1605 100% .

UTP18 1723 95% .

UTP20 8606 99% .

UTP23 762 100% .

UTP3 1444 100% .

UTP6 1870 100% .

UTRN 10598 100% .

UTS2 627 100% .

UTS2D 380 100% .

UTS2R 1174 86% .

UTY 4569 94% .

UVRAG 2160 91% .

UXS1 1485 93% .

UXT 672 97% .

VAC14 2425 98% .

VAMP1 476 99% .

VAMP2 371 98% .

VAMP3 323 100% .

VAMP4 509 100% .

VAMP5 363 98% .

VAMP7 2580 50% .

VAMP8 315 98% .

VANGL1 1740 100% Caudal Dysgenesis Syndrome

VANGL1 1740 100% VANGL1-Related Neural Tube Defect

VANGL2 1594 100% .

VAPA 913 100% .

VAPB 919 100% Amyotrophic Lateral Sclerosis

VAPB 919 100% VAPB-Related Amyotrophic Lateral Sclerosis

VAPB 919 100% Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant

VARS 3911 100% .

VARS2 3765 94% .

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VASH1 1126 71% .

VASH2 1469 75% .

VASN 2026 84% .

VASP 1195 79% .

VAT1 1206 87% .

VAT1L 1296 83% .

VAV1 2646 89% .

VAV2 2757 99% .

VAV3 2732 100% .

VAX1 1157 75% Anophthalmia/Microphthalmia

VAX2 885 72% .

VBP1 618 84% .

VCAM1 2536 100% .

VCAN 10247 100% VCAN-Related Vitreoretinopathy

VCAN 10247 100% Wagner Syndrome

VCAN 10247 100% Erosive Vitreoretinopathy

VCL 3493 98% Dilated Cardiomyopathy

VCL 3493 98% VCL-Related Dilated Cardiomyopathy

VCL 3493 98% Choriodal Dystrophy, Central Areolar 2

VCP 2489 99% Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia

VCP 2489 99% Amyotrophic Lateral Sclerosis

VCP 2489 99% VCP-Related Amyotrophic Lateral Sclerosis

VCPIP1 3681 100% .

VCX 629 99% .

VCX2 428 86% .

VCX3A 569 93% .

VCX3B 749 96% .

VCY 772 0% .

VCY1B 772 0% .

VDAC1 884 100% .

VDAC2 1001 100% .

VDAC3 944 100% .

VDR 1466 100% Osteoporosis

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Feb 2013

Page 617


VDR 1466 100% Vitamin D-Dependent Rickets Type II

VDR 1466 100% Choriodal Dystrophy, Central Areolar 2

VEGFA 2323 71% .

VEGFB 866 89% .

VEGFC 1291 99% .

VENTX 789 92% .

VEPH1 2968 100% .

VEZF1 1590 98% .

VEZT 2388 100% .

VGF 1852 80% .

VGLL1 793 100% .

VGLL2 970 67% .

VGLL3 997 100% .

VGLL4 1003 84% .

VHL 654 78% Von Hippel-Lindau Disease

VHL 654 78% Familial Erythrocytosis 2

VHL 654 78% VHL-Related Pheochromocytoma

VHL 654 78% Choriodal Dystrophy, Central Areolar 2

VHLL 424 100% .

VIL1 2560 99% .

VILL 2647 99% .

VIM 1437 98% .

VIP 669 100% .

VIPR1 2187 70% .

VIPR2 1369 84% .

VIT 2474 100% .

VKORC1 717 100% Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2

VKORC1L1 543 98% .

VLDLR 2698 97% VLDLR-Associated Cerebellar Hypoplasia

VMA21 318 82% .

VMAC 518 52% .

VMO1 1265 100% .

VMP1 1265 100% .

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Feb 2013

Page 618


VN1R1 1066 100% .

VN1R2 1192 86% .

VN1R4 910 100% .

VN1R5 1078 100% .

VNN1 1570 100% .

VNN2 1808 100% .

VOPP1 539 92% .

VPRBP 4531 100% .

VPREB1 446 100% .

VPREB3 380 98% .

VPS11 2889 100% .

VPS13A 9941 100% Chorea-acanthocytosis

VPS13A 9941 100% Choriodal Dystrophy, Central Areolar 2

VPS13B 12822 99% Cohen Syndrome

VPS13C 11630 100% .

VPS13D 13443 100% .

VPS16 2616 97% .

VPS18 2942 97% .

VPS25 555 100% .

VPS26A 1138 99% .

VPS26B 1035 100% .

VPS28 1480 93% .

VPS29 581 100% .

VPS33A 1843 100% .

VPS33B 1946 97% Arthrogryposis, Renal Dysfunction, and Cholestasis 1

VPS35 2459 100% .

VPS36 1217 100% .

VPS37A 1238 92% .

VPS37B 874 97% .

VPS37C 1084 60% .

VPS37D 772 41% .

VPS39 2728 98% .

VPS41 2681 100% .

UCLA Health System




Feb 2013

Page 619


VPS45 1773 100% .

VPS4A 1358 98% .

VPS4B 1379 100% .

VPS52 2252 100% .

VPS53 2691 100% .

VPS54 3268 100% .

VPS72 1119 100% .

VPS8 4665 100% .

VRK1 1239 100% Pontocerebellar Hypoplasia Type 1A

VRK2 1728 99% .

VRK3 1473 100% .

VRTN 2113 100% .

VSIG1 1304 100% .

VSIG10 1659 97% .

VSIG10L 2644 34% .

VSIG2 1012 100% .

VSIG4 1266 99% .

VSIG8 1273 80% .

VSNL1 588 100% .

VSTM1 747 100% .

VSTM2A 731 100% .

VSTM2B 878 57% .

VSTM2L 631 67% .

VSTM4 1118 95% .

VSTM5 619 85% .

VSX1 1432 59% Keratoconus 1

VSX1 1432 59% Posterior Polymorphous Corneal Dystrophy 1

VSX2 1106 57% Anophthalmia/Microphthalmia

VSX2 1106 57% VSX2-Related Isolated Microphthalmia

VSX2 1106 57% Choriodal Dystrophy, Central Areolar 2

VTA1 956 100% .

VTCN1 1221 100% .

VTI1A 686 100% .

UCLA Health System




Feb 2013

Page 620


VTI1B 723 100% .

VTN 1469 97% .

VWA1 1912 72% .

VWA2 2222 100% .

VWA3A 3687 100% .

VWA3B 3993 100% .

VWA5A 2521 100% .

VWA5B1 3732 94% .

VWA5B2 3805 75% .

VWA7 2740 88% .

VWC2 990 46% .

VWC2L 681 100% .

VWCE 2948 92% .

VWDE 4889 99% .

VWF 8646 96% von Willebrand Disease

VWF 8646 96% Choriodal Dystrophy, Central Areolar 2

WAC 2000 100% .

WAPAL 3645 100% .

WARS 1674 100% .

WARS2 1618 100% .

WAS 1557 81% Wiskott-Aldrich Syndrome

WAS 1557 81% WAS-Related Disorders

WAS 1557 81% Choriodal Dystrophy, Central Areolar 2

WASF1 1712 100% .

WASF2 1691 100% .

WASF3 1541 100% .

WASH1 1438 43% .

WASL 1562 98% .

WBP1 826 97% .

WBP11 1970 100% .

WBP2 818 85% .

WBP2NL 954 100% .

WBP4 1171 100% .

UCLA Health System




Feb 2013

Page 621


WBP5 319 100% .

WBSCR16 1439 42% .

WBSCR17 1841 99% .

WBSCR22 894 100% .

WBSCR27 758 95% .

WBSCR28 810 100% .

WDFY1 1281 100% .

WDFY2 1251 100% .

WDFY3 10841 100% .

WDFY4 9799 95% .

WDHD1 3606 100% .

WDPCP 2313 99% Bardet-Biedl Syndrome

WDPCP 2313 99% WDPCP-Related Bardet-Biedl Syndrome

WDR1 1881 99% .

WDR11 3791 100% .

WDR12 1324 100% .

WDR13 1739 97% .

WDR16 2060 100% .

WDR17 4362 100% .

WDR18 1339 72% .

WDR19 4173 100% Asphyxiating Thoracic Dystrophy

WDR19 4173 100% Cranioectodermal Dysplasia 4

WDR19 4173 100% Cranioectodermal Dysplasia

WDR19 4173 100% Asphyxiating Thoracic Dystrophy 5

WDR20 3332 100% .

WDR24 2409 90% .

WDR25 1659 100% .

WDR26 2151 97% .

WDR27 2725 97% .

WDR3 2936 100% .

WDR31 1277 100% .

WDR33 5015 100% .

WDR34 1647 91% .

UCLA Health System




Feb 2013

Page 622


WDR35 3658 100% Short Rib-Polydactyly Syndrome, Type V

WDR35 3658 100% Cranioectodermal Dysplasia 2

WDR35 3658 100% Cranioectodermal Dysplasia

WDR36 2948 100% Primary Open Angle Glaucoma (Adult Onset)

WDR37 1537 100% .

WDR38 981 93% .

WDR4 1283 82% .

WDR41 1432 100% .

WDR43 2106 100% .

WDR44 2954 100% .

WDR45 1239 98% .

WDR45L 1075 100% .

WDR46 2107 100% .

WDR47 3081 100% .

WDR48 2110 100% .

WDR49 2150 100% .

WDR5 1057 100% .

WDR52 5898 100% .

WDR53 1085 100% .

WDR54 1041 100% .

WDR55 1180 100% .

WDR59 3029 99% .

WDR5B 997 100% .

WDR6 3480 100% .

WDR60 3301 95% .

WDR61 958 100% .

WDR62 4819 96% Primary Autosomal Recessive Microcephaly Type 2

WDR62 4819 96% Primary Autosomal Recessive Microcephaly

WDR62 4819 96% Microcephaly, Cortical Malformations, and Mental Retardation

WDR63 2764 100% .

WDR64 3354 100% .

WDR65 4355 100% .

WDR66 3593 100% .

UCLA Health System




Feb 2013

Page 623


WDR67 3289 98% .

WDR69 1300 100% .

WDR7 4581 100% .

WDR70 2037 100% .

WDR72 3385 100% Amelogenesis Imperfecta, Hypomaturation Type, IIA3

WDR73 1169 100% .

WDR74 1202 100% .

WDR75 2577 97% .

WDR76 2339 100% .

WDR77 1069 89% .

WDR78 2820 100% .

WDR81 9711 84% .

WDR82 978 100% .

WDR83 984 99% .

WDR83OS 337 100% .

WDR85 1395 88% .

WDR86 1155 66% .

WDR87 8642 100% .

WDR88 1463 100% .

WDR89 1168 100% .

WDR90 5411 85% .

WDR91 2304 100% .

WDR92 1106 100% .

WDR93 2125 100% .

WDR96 5150 100% .

WDSUB1 1471 100% .

WDTC1 2091 100% .

WDYHV1 642 86% .

WEE1 2195 77% .

WEE2 1752 100% .

WFDC1 687 71% .

WFDC10A 248 100% .

WFDC10B 463 100% .

UCLA Health System




Feb 2013

Page 624


WFDC11 276 100% .

WFDC12 348 100% .

WFDC13 294 100% .

WFDC2 387 83% .

WFDC3 720 100% .

WFDC5 388 98% .

WFDC6 273 100% .

WFDC8 750 100% .

WFDC9 282 100% .

WFIKKN1 1655 88% .

WFIKKN2 1739 99% .

WFS1 2701 88% WFS1-Related Disorders

WFS1 2701 88% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

WFS1 2701 88% DFNA 6/14/38 Nonsyndromic Hearing Loss and Deafness

WFS1 2701 88% Wolfram Syndrome-Like Disease

WFS1 2701 88% DFNA6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss

WFS1 2701 88% Wolfram Syndrome

WFS1 2701 88% Choriodal Dystrophy, Central Areolar 2

WHAMM 2470 85% .

WHSC1 4396 100% .

WHSC1L1 4493 100% .

WHSC2 1664 81% .

WIBG 665 88% .

WIF1 1180 88% .

WIPF1 1540 100% .

WIPF2 1351 100% .

WIPF3 1480 78% .

WIPI1 1393 94% .

WIPI2 1794 96% .

WISP1 1428 100% .

WISP2 769 81% .

WISP3 1245 100% Progressive Pseudorheumatoid Arthropathy of Childhood

WISP3 1245 100% Choriodal Dystrophy, Central Areolar 2

UCLA Health System




Feb 2013

Page 625


WIZ 2413 94% .

WLS 2077 100% .

WNK1 8982 97% Hereditary Sensory and Autonomic Neuropathy Type IIA

WNK1 8982 97% Hereditary Sensory and Autonomic Neuropathy Type II

WNK1 8982 97% Pseudohypoaldosteronism Type IIC

WNK1 8982 97% Pseudohypoaldosteronism Type II

WNK2 6770 90% .

WNK3 5731 99% .

WNK4 3808 97% Pseudohypoaldosteronism Type IIB

WNK4 3808 97% Pseudohypoaldosteronism Type II

WNT1 1129 79% .

WNT10A 1270 93% Odontoonychodermal Dysplasia

WNT10A 1270 93% Schopf-Schulz-Passarge Syndrome

WNT10A 1270 93% Tooth Agenesis, Selective, 4

WNT10B 1186 94% .

WNT11 1085 69% .

WNT16 1183 99% .

WNT2 1103 100% .

WNT2B 1329 99% .

WNT3 1084 98% Tetra-Amelia Syndrome

WNT3A 1075 99% .

WNT4 1076 92% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

WNT4 1076 92% WNT4-Related 46,XY DSD and 46,XY CGD

WNT4 1076 92% Mullerian Aplasia And Hyperandrogenism

WNT5A 1301 99% WNT5A-Related Robinow Syndrome, Autosomal Dominant

WNT5B 1096 100% .

WNT6 1114 69% .

WNT7A 1066 100% Absence of Ulna and Fibula with Severe Limb Deficiency

WNT7A 1066 100% Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly

WNT7B 1066 100% .

WNT8A 1080 100% .

WNT8B 1080 99% .

WNT9A 1114 87% .

UCLA Health System




Feb 2013

Page 626


WNT9B 1090 93% .

WRAP53 1687 100% Dyskeratosis Congenita

WRAP53 1687 100% WRAP53-Related Dyskeratosis Congenita

WRAP73 1431 100% .

WRB 545 98% .

WRN 4435 100% Werner Syndrome

WRN 4435 100% Choriodal Dystrophy, Central Areolar 2

WRNIP1 2272 81% .

WSB1 1302 100% .

WSB2 1251 99% .

WSCD1 1760 91% .

WSCD2 1730 99% .

WT1 1705 75% Wilms Tumor

WT1 1705 75% Denys-Drash Syndrome

WT1 1705 75% Diffuse Mesangial Sclerosis Syndromes (DMS)

WT1 1705 75% Isolated Diffuse Mesangial Sclerosis

WT1 1705 75% Frasier Syndrome

WT1 1705 75% Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

WT1 1705 75% Aniridia-Wilms Tumor Contiguous Gene Deletion Syndrome

WT1 1705 75% WT1-Related Disorders

WT1 1705 75% Meacham Syndrome

WT1 1705 75% Choriodal Dystrophy, Central Areolar 2

WTAP 1410 100% .

WTH3DI 769 99% .

WTIP 1325 49% .

WWC1 3837 97% .

WWC2 3671 96% .

WWC3 3367 95% .

WWOX 1458 87% .

WWP1 2861 100% .

WWP2 2940 100% .

WWTR1 1227 99% .

XAB2 2644 94% .

UCLA Health System




Feb 2013

Page 627


XAF1 934 100% .

XAGE1A 2605 0% .

XAGE1B 2605 0% .

XAGE1C 2605 0% .

XAGE1D 2605 0% .

XAGE1E 2605 0% .

XAGE2 704 0% .

XAGE2B 704 0% .

XAGE3 352 100% .

XAGE5 343 100% .

XBP1 2039 92% .

XCL1 357 100% .

XCL2 357 100% .

XCR1 1006 100% .

XDH 4146 98% Xanthinuria, Type I

XG 705 86% .

XIAP 1518 100% XIAP-Related Lymphoproliferative Disease, X-Linked

XIAP 1518 100% Lymphoproliferative Disease, X-Linked

XIRP1 16608 100% .

XIRP2 12642 100% .

XK 1347 95% McLeod Neuroacanthocytosis Syndrome

XKR3 1392 80% .

XKR4 1965 100% .

XKR5 2090 97% .

XKR6 1938 93% .

XKR7 1752 82% .

XKR8 1200 75% .

XKR9 1134 100% .

XKRX 1362 100% .

XKRY 716 0% .

XKRY2 716 0% .

XPA 846 96% Xeroderma Pigmentosum

XPA 846 96% XPA-Related Xeroderma Pigmentosum

UCLA Health System




Feb 2013

Page 628


XPC 3132 100% Xeroderma Pigmentosum

XPC 3132 100% XPC-Related Xeroderma Pigmentosum

XPNPEP1 2085 94% .

XPNPEP2 2109 92% .

XPNPEP3 1564 100% Nephronophthisis-Like Nephropathy 1

XPO1 3312 100% .

XPO4 3548 99% .

XPO5 3743 100% .

XPO6 3474 100% .

XPO7 3376 99% .

XPOT 2985 100% .

XPR1 2151 100% .

XRCC1 1970 97% .

XRCC2 855 100% .

XRCC3 1069 69% .

XRCC4 1161 100% .

XRCC5 2283 100% .

XRCC6 1878 100% .

XRCC6BP1 765 96% .

XRN1 5289 100% .

XRN2 2973 97% .

XRRA1 2447 100% .

XXYLT1 1198 76% .

XYLB 1687 97% .

XYLT1 2928 88% .

XYLT2 2642 90% .

YAE1D1 693 100% .

YAF2 841 71% .

YAP1 1806 95% .

YARS 1639 100% YARS-Related Intermediate Charcot-Marie-Tooth Neuropathy

YARS2 1454 100% Congenital Sideroblastic Anemia

YARS2 1454 100% Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2

YBEY 707 86% .

UCLA Health System




Feb 2013

Page 629


YBX1 1003 83% .

YBX2 1127 76% .

YDJC 992 61% .

YEATS2 4389 99% .

YEATS4 712 100% .

YES1 1676 100% .

YIF1A 914 98% .

YIF1B 1557 91% .

YIPF1 953 100% .

YIPF2 983 96% .

YIPF3 1089 100% .

YIPF4 759 91% .

YIPF5 794 100% .

YIPF6 739 94% .

YIPF7 867 100% .

YJEFN3 928 77% .

YKT6 625 99% .

YLPM1 6521 100% .

YME1L1 2402 100% .

YOD1 1055 95% .

YPEL1 376 100% .

YPEL2 376 100% .

YPEL3 725 100% .

YPEL4 400 90% .

YPEL5 374 100% .

YRDC 860 55% .

YSK4 4027 100% .

YTHDC1 2252 100% .

YTHDC2 4409 100% .

YTHDF1 1700 98% .

YTHDF2 3348 99% .

YTHDF3 1777 98% .

YWHAB 761 100% .

UCLA Health System




Feb 2013

Page 630


YWHAE 792 100% .

YWHAG 752 100% .

YWHAH 749 88% .

YWHAQ 758 100% .

YWHAZ 758 100% .

YY1 1265 90% .

YY1AP1 4968 100% .

YY2 1123 100% .

ZACN 1275 98% .

ZADH2 1142 92% .

ZAK 2864 100% .

ZAN 8835 98% .

ZAP70 2105 92% ZAP70-Related Severe Combined Immunodeficiency

ZAR1 1291 36% .

ZAR1L 982 97% .

ZBBX 2714 100% .

ZBED1 4178 50% .

ZBED2 661 100% .

ZBED3 709 13% .

ZBED4 3520 100% .

ZBED5 2086 30% .

ZBED6 2944 0% .

ZBP1 1897 96% .

ZBTB1 4333 100% .

ZBTB10 2821 84% .

ZBTB11 3206 100% .

ZBTB12 1384 97% .

ZBTB16 2046 100% .

ZBTB17 2806 94% .

ZBTB2 1553 100% .

ZBTB20 3851 100% .

ZBTB22 1909 100% .

ZBTB24 3174 100% .

UCLA Health System




Feb 2013

Page 631


ZBTB25 1316 100% .

ZBTB26 1330 100% .

ZBTB3 1733 100% .

ZBTB32 1484 100% .

ZBTB33 2023 100% .

ZBTB34 1507 100% .

ZBTB37 1754 100% .

ZBTB38 3592 100% .

ZBTB39 2143 100% .

ZBTB4 3050 95% .

ZBTB40 3788 100% .

ZBTB41 2770 100% .

ZBTB42 1273 1% .

ZBTB43 1408 100% .

ZBTB44 1382 100% .

ZBTB45 1544 98% .

ZBTB46 1786 97% .

ZBTB47 2264 75% .

ZBTB48 2107 100% .

ZBTB49 2326 100% .

ZBTB5 2038 100% .

ZBTB6 1279 100% .

ZBTB7A 1763 78% .

ZBTB7B 2786 100% .

ZBTB7C 1868 95% .

ZBTB8A 1338 100% .

ZBTB8B 1500 100% .

ZBTB8OS 568 100% .

ZBTB9 1426 100% .

ZC3H10 1309 100% .

ZC3H11A 2497 100% .

ZC3H12A 1820 100% .

ZC3H12B 2531 100% .

UCLA Health System




Feb 2013

Page 632


ZC3H12C 2676 99% .

ZC3H12D 1604 64% .

ZC3H13 4759 100% .

ZC3H14 3120 99% .

ZC3H15 1321 98% .

ZC3H18 2930 90% .

ZC3H3 2895 88% .

ZC3H4 3968 86% .

ZC3H6 3618 100% .

ZC3H7A 3004 100% .

ZC3H7B 3022 100% .

ZC3H8 908 99% .

ZC3HAV1 2876 100% .

ZC3HAV1L 923 61% .

ZC3HC1 1549 100% .

ZC4H2 1027 96% .

ZCCHC10 529 100% .

ZCCHC11 5282 100% .

ZCCHC12 1213 100% .

ZCCHC13 505 99% .

ZCCHC14 2902 99% .

ZCCHC16 937 100% .

ZCCHC17 754 100% .

ZCCHC18 1216 100% .

ZCCHC2 3593 74% .

ZCCHC24 742 69% .

ZCCHC3 1219 63% .

ZCCHC4 1594 100% .

ZCCHC5 1432 99% .

ZCCHC6 4592 100% .

ZCCHC7 1664 100% .

ZCCHC8 2180 100% .

ZCCHC9 836 100% .

UCLA Health System




Feb 2013

Page 633


ZCRB1 682 100% .

ZCWPW1 2011 100% .

ZCWPW2 1103 100% .

ZDBF2 7077 100% .

ZDHHC1 1498 73% .

ZDHHC11 1287 99% .

ZDHHC12 824 86% .

ZDHHC13 2086 98% .

ZDHHC14 1906 96% .

ZDHHC15 1343 100% X-Linked Mental Retardation 91

ZDHHC16 1312 100% .

ZDHHC17 1967 100% .

ZDHHC18 1199 72% .

ZDHHC19 958 87% .

ZDHHC2 1152 88% .

ZDHHC20 1113 99% .

ZDHHC21 826 100% .

ZDHHC22 800 95% .

ZDHHC23 1250 100% .

ZDHHC24 867 89% .

ZDHHC3 1012 100% .

ZDHHC4 1059 100% .

ZDHHC5 2192 100% .

ZDHHC6 1282 99% .

ZDHHC7 1066 100% .

ZDHHC8 2557 88% .

ZDHHC9 1131 100% Mental Retardation, X-Linked, Syndromic, Raymond Type

ZEB1 3492 99% .

ZEB2 3681 100% Mowat-Wilson Syndrome

ZER1 2361 98% .

ZFAND1 1303 95% .

ZFAND2A 454 100% .

ZFAND2B 810 100% .

UCLA Health System




Feb 2013

Page 634


ZFAND3 708 89% .

ZFAND4 2220 100% .

ZFAND5 662 100% .

ZFAND6 978 100% .

ZFAT 3977 99% .

ZFC3H1 6110 100% .

ZFHX2 7755 86% .

ZFHX3 11649 100% .

ZFHX4 10891 100% .

ZFP1 1236 100% .

ZFP106 5728 100% .

ZFP112 2889 100% .

ZFP14 1618 100% .

ZFP161 1358 100% .

ZFP2 1390 100% .

ZFP28 2639 95% .

ZFP3 1513 100% .

ZFP30 1576 100% .

ZFP36 989 100% .

ZFP36L1 1591 100% .

ZFP36L2 1493 71% .

ZFP37 1909 100% .

ZFP41 601 100% .

ZFP42 937 100% .

ZFP57 1627 100% Diabetes Mellitus, 6q24-Related Transient Neonatal

ZFP62 5417 83% .

ZFP64 3505 100% .

ZFP82 1615 100% .

ZFP90 1927 100% .

ZFP91 1866 90% .

ZFP92 1267 83% .

ZFPL1 961 100% .

ZFPM1 3061 53% .

UCLA Health System




Feb 2013

Page 635


ZFPM2 3488 99% .

ZFR 3305 97% .

ZFR2 3060 61% .

ZFX 4051 100% .

ZFY 3011 100% .

ZFYVE1 2489 100% .

ZFYVE16 4688 100% .

ZFYVE19 1460 96% .

ZFYVE20 2399 100% .

ZFYVE21 791 98% .

ZFYVE26 7784 100% Spastic Paraplegia 15

ZFYVE27 1782 99% Spastic Paraplegia 33

ZFYVE28 3131 86% .

ZFYVE9 4472 100% .

ZG16 516 100% .

ZG16B 643 98% .

ZGLP1 832 99% .

ZGPAT 1961 100% .

ZHX1 2626 100% .

ZHX1-C8ORF76 847 100% .

ZHX2 2518 100% .

ZHX3 2879 100% .

ZIC1 1356 100% .

ZIC2 1611 66% Holoprosencephaly

ZIC2 1611 66% ZIC2-Related Holoprosencephaly

ZIC2 1611 66% Choriodal Dystrophy, Central Areolar 2

ZIC3 1416 80% Heterotaxy Syndrome

ZIC3 1416 80% ZIC3-Related Visceral Heterotaxy

ZIC3 1416 80% VACTERL Association, X-Linked, with or without Hydrocephalus

ZIC3 1416 80% Choriodal Dystrophy, Central Areolar 2

ZIC4 1367 82% .

ZIC5 2000 47% .

ZIK1 1480 100% .

UCLA Health System




Feb 2013

Page 636


ZIM2 1998 100% .

ZIM3 1435 100% .

ZKSCAN1 1712 100% .

ZKSCAN2 2932 100% .

ZKSCAN3 1789 100% .

ZKSCAN4 1658 100% .

ZKSCAN5 2544 100% .

ZMAT1 1941 94% .

ZMAT2 624 100% .

ZMAT3 1106 100% .

ZMAT4 714 86% .

ZMAT5 533 98% .

ZMIZ1 3288 100% .

ZMIZ2 2835 100% .

ZMPSTE24 1468 100% Mandibuloacral Dysplasia

ZMPSTE24 1468 100% Lethal Restrictive Dermopathy, ZMPSTE24-Related

ZMYM1 3465 100% .

ZMYM2 4226 100% .

ZMYM3 4570 95% .

ZMYM4 4767 99% .

ZMYM5 2707 100% .

ZMYM6 4038 75% .

ZMYM6NB 477 81% .

ZMYND10 1371 99% .

ZMYND11 2157 100% .

ZMYND12 1276 100% .

ZMYND15 2281 89% .

ZMYND17 1407 100% .

ZMYND19 708 92% .

ZMYND8 3882 98% .

ZNF10 1738 100% .

ZNF100 1649 100% .

ZNF101 1327 100% .

UCLA Health System




Feb 2013

Page 637


ZNF107 2360 100% .

ZNF114 1266 100% .

ZNF117 1460 100% .

ZNF12 5830 100% .

ZNF121 1181 100% .

ZNF124 886 96% .

ZNF131 1798 100% .

ZNF132 2133 97% .

ZNF133 1974 100% .

ZNF134 1292 99% .

ZNF135 7645 100% .

ZNF136 1639 100% .

ZNF138 1873 100% .

ZNF14 1945 100% .

ZNF140 1390 61% .

ZNF141 1441 100% .

ZNF142 5092 100% .

ZNF143 1977 100% .

ZNF146 883 100% .

ZNF148 2409 100% .

ZNF154 1326 97% .

ZNF155 1633 100% .

ZNF157 1537 98% .

ZNF16 2057 100% .

ZNF160 2473 100% .

ZNF165 1470 100% .

ZNF167 2309 99% .

ZNF169 1828 100% .

ZNF17 2001 100% .

ZNF174 1320 100% .

ZNF175 2152 100% .

ZNF177 2580 79% .

ZNF18 1674 99% .

UCLA Health System




Feb 2013

Page 638


ZNF180 2099 100% .

ZNF181 1835 100% .

ZNF182 1955 96% .

ZNF184 2276 100% .

ZNF185 2527 86% .

ZNF187 2297 85% .

ZNF189 2024 100% .

ZNF19 1393 100% .

ZNF192 1757 100% .

ZNF193 1354 88% .

ZNF195 1914 92% .

ZNF197 3149 100% .

ZNF2 1428 100% .

ZNF20 1755 100% .

ZNF200 2061 100% .

ZNF202 1971 100% .

ZNF205 1689 100% .

ZNF207 1533 100% .

ZNF208 3859 100% .

ZNF211 1750 98% .

ZNF212 1508 98% .

ZNF213 1400 100% .

ZNF214 1829 100% .

ZNF215 1574 100% .

ZNF217 3163 100% .

ZNF219 2185 64% .

ZNF22 679 100% .

ZNF221 1870 100% .

ZNF222 1511 97% .

ZNF223 1465 100% .

ZNF224 2140 100% .

ZNF225 2137 100% .

ZNF226 2482 100% .

UCLA Health System




Feb 2013

Page 639


ZNF227 2416 100% .

ZNF229 2494 100% .

ZNF23 1944 100% .

ZNF230 1441 100% .

ZNF232 1351 100% .

ZNF233 2029 100% .

ZNF234 2119 100% .

ZNF235 2233 100% .

ZNF236 5662 98% .

ZNF238 3191 100% .

ZNF239 1381 100% .

ZNF24 1119 100% .

ZNF248 1756 100% .

ZNF25 1391 100% .

ZNF250 1849 99% .

ZNF251 2032 100% .

ZNF253 1516 100% .

ZNF254 1996 100% .

ZNF256 1896 98% .

ZNF257 1708 100% .

ZNF259 1436 94% .

ZNF26 1618 0% .

ZNF260 1243 100% .

ZNF263 2076 100% .

ZNF264 1900 99% .

ZNF266 1666 100% .

ZNF267 2248 100% .

ZNF268 7887 95% .

ZNF273 1726 100% .

ZNF274 2475 100% .

ZNF275 1006 100% .

ZNF276 2197 90% .

ZNF277 1401 100% .

UCLA Health System




Feb 2013

Page 640


ZNF28 2169 100% .

ZNF280A 1633 100% .

ZNF280B 1636 100% .

ZNF280C 2286 99% .

ZNF280D 3507 100% .

ZNF281 2692 90% .

ZNF282 2048 79% .

ZNF283 2056 94% .

ZNF284 1798 100% .

ZNF285 1785 100% .

ZNF286A 1586 100% .

ZNF286B 1585 94% .

ZNF287 2306 100% .

ZNF292 8204 98% .

ZNF295 9615 100% .

ZNF296 1440 99% .

ZNF3 1486 100% .

ZNF30 1994 100% .

ZNF300 2060 100% .

ZNF302 1216 100% .

ZNF304 1992 100% .

ZNF311 2025 100% .

ZNF317 1812 94% .

ZNF318 6880 94% .

ZNF319 1753 99% .

ZNF32 830 100% .

ZNF320 1542 100% .

ZNF322 1213 88% .

ZNF323 1388 100% .

ZNF324 1674 98% .

ZNF324B 1647 100% .

ZNF326 1921 99% .

ZNF329 1630 100% .

UCLA Health System




Feb 2013

Page 641


ZNF330 999 100% .

ZNF331 1404 100% .

ZNF333 2042 100% .

ZNF334 2190 100% .

ZNF335 4137 99% .

ZNF337 2272 100% .

ZNF33A 4642 100% .

ZNF33B 2353 100% .

ZNF34 1703 94% .

ZNF341 2604 99% .

ZNF343 1816 100% .

ZNF345 1471 100% .

ZNF346 913 82% .

ZNF347 2675 100% .

ZNF35 1596 100% .

ZNF350 1615 100% .

ZNF354A 1834 100% .

ZNF354B 1855 99% .

ZNF354C 1681 100% .

ZNF358 1711 81% .

ZNF362 1295 89% .

ZNF365 2153 99% .

ZNF366 2251 100% .

ZNF367 1073 78% .

ZNF37A 1702 100% .

ZNF382 1665 100% .

ZNF383 1444 100% .

ZNF384 2108 100% .

ZNF385A 1334 61% .

ZNF385B 1624 100% .

ZNF385D 1220 100% .

ZNF391 1081 100% .

ZNF394 1698 100% .

UCLA Health System




Feb 2013

Page 642


ZNF395 1578 98% .

ZNF396 1018 100% .

ZNF397 3642 100% .

ZNF398 2084 99% .

ZNF404 1658 100% .

ZNF407 7112 99% .

ZNF408 2215 100% .

ZNF41 2356 97% X-Linked Mental Retardation 89

ZNF410 1906 100% .

ZNF414 1288 37% .

ZNF415 1699 100% .

ZNF416 1801 98% .

ZNF417 1740 100% .

ZNF418 2043 100% .

ZNF419 1690 100% .

ZNF420 2079 100% .

ZNF423 3887 100% .

ZNF425 2275 100% .

ZNF426 1689 100% .

ZNF428 2682 28% .

ZNF429 2041 100% .

ZNF43 2446 100% .

ZNF430 1836 100% .

ZNF431 1751 100% .

ZNF432 1975 100% .

ZNF433 2038 100% .

ZNF434 1470 100% .

ZNF436 1425 100% .

ZNF438 4351 100% .

ZNF439 1512 100% .

ZNF44 2012 100% .

ZNF440 1804 100% .

ZNF441 2098 100% .

UCLA Health System




Feb 2013

Page 643


ZNF442 1900 100% .

ZNF443 2032 100% .

ZNF444 1578 37% .

ZNF445 3120 99% .

ZNF446 1377 99% .

ZNF449 1573 100% .

ZNF45 2065 100% .

ZNF451 3246 97% .

ZNF454 1585 100% .

ZNF460 1701 100% .

ZNF461 1712 96% .

ZNF462 7569 100% .

ZNF467 1804 70% .

ZNF468 3012 100% .

ZNF469 11786 0% Brittle Cornea Syndrome 1

ZNF470 2170 100% .

ZNF471 1897 100% .

ZNF473 2632 100% .

ZNF474 1099 100% .

ZNF479 1591 100% .

ZNF48 3647 98% .

ZNF480 1624 100% .

ZNF483 2309 100% .

ZNF484 2706 100% .

ZNF485 1342 100% .

ZNF486 1408 100% .

ZNF488 1027 100% .

ZNF490 1610 100% .

ZNF491 1318 100% .

ZNF492 1608 100% .

ZNF493 4583 99% .

ZNF496 1792 100% .

ZNF497 1501 98% .

UCLA Health System




Feb 2013

Page 644


ZNF498 1655 100% .

ZNF500 1463 93% .

ZNF501 820 100% .

ZNF502 1643 100% .

ZNF503 1949 77% .

ZNF506 1351 100% .

ZNF507 2882 100% .

ZNF510 2072 100% .

ZNF511 783 81% .

ZNF512 1760 100% .

ZNF512B 2743 86% .

ZNF513 1802 100% Retinitis Pigmentosa, Autosomal Recessive

ZNF513 1802 100% Retinitis Pigmentosa

ZNF513 1802 100% ZNF513-Related Retinitis Pigmentosa

ZNF514 1215 100% .

ZNF516 4967 99% .

ZNF517 1495 96% .

ZNF518A 4455 100% .

ZNF518B 3229 100% .

ZNF519 1635 100% .

ZNF521 3964 99% .

ZNF524 799 92% .

ZNF526 2017 100% .

ZNF527 1846 100% .

ZNF528 1903 100% .

ZNF529 1806 99% .

ZNF530 1812 99% .

ZNF532 3938 100% .

ZNF534 2211 100% .

ZNF536 3919 100% .

ZNF540 1999 99% .

ZNF541 4158 67% .

ZNF543 1819 100% .

UCLA Health System




Feb 2013

Page 645


ZNF544 2164 100% .

ZNF546 2531 100% .

ZNF547 1221 100% .

ZNF548 1654 100% .

ZNF549 1939 100% .

ZNF550 1154 100% .

ZNF551 1977 100% .

ZNF552 1236 100% .

ZNF554 1637 97% .

ZNF555 3480 100% .

ZNF556 1387 99% .

ZNF557 1410 100% .

ZNF558 1233 99% .

ZNF559 1801 100% .

ZNF559-ZNF177 1466 81% .

ZNF560 2405 100% .

ZNF561 1481 100% .

ZNF562 1301 100% .

ZNF563 1447 100% .

ZNF564 1678 100% .

ZNF565 1516 100% .

ZNF566 1379 100% .

ZNF567 1863 100% .

ZNF568 3667 100% .

ZNF569 2077 100% .

ZNF57 1684 100% .

ZNF570 1627 100% .

ZNF571 1842 100% .

ZNF572 1598 100% .

ZNF573 2373 95% .

ZNF574 2695 100% .

ZNF575 746 80% .

ZNF576 521 100% .

UCLA Health System




Feb 2013

Page 646


ZNF577 2653 100% .

ZNF578 1785 100% .

ZNF579 1693 28% .

ZNF580 523 68% .

ZNF581 598 100% .

ZNF582 1570 100% .

ZNF583 1726 100% .

ZNF584 1282 98% .

ZNF585A 2157 100% .

ZNF585B 2326 100% .

ZNF586 2402 98% .

ZNF587 1874 100% .

ZNF589 1111 100% .

ZNF592 3836 100% .

ZNF593 417 71% .

ZNF594 2428 100% .

ZNF595 5407 99% .

ZNF596 1535 100% .

ZNF597 1287 100% .

ZNF598 3221 77% .

ZNF599 1783 99% .

ZNF600 2173 100% .

ZNF605 2035 34% .

ZNF606 2403 100% .

ZNF607 2210 100% .

ZNF608 4575 100% .

ZNF609 4268 100% .

ZNF610 1405 100% .

ZNF611 4062 100% .

ZNF613 2001 100% .

ZNF614 1774 100% .

ZNF615 2249 98% .

ZNF616 2358 100% .

UCLA Health System




Feb 2013

Page 647


ZNF618 2642 99% .

ZNF619 1943 95% .

ZNF620 2293 100% .

ZNF621 1336 91% .

ZNF622 1458 100% .

ZNF623 3230 100% .

ZNF624 2618 100% .

ZNF625 925 100% .

ZNF626 1660 99% .

ZNF627 1402 100% .

ZNF628 3172 69% .

ZNF629 2618 100% .

ZNF630 2121 98% .

ZNF638 6168 100% .

ZNF639 1474 100% .

ZNF641 1856 100% .

ZNF642 1601 100% .

ZNF643 1625 100% .

ZNF644 4052 100% .

ZNF645 1282 100% .

ZNF646 5507 100% .

ZNF648 1711 96% .

ZNF649 1534 100% .

ZNF652 1841 100% .

ZNF653 1884 79% .

ZNF654 1754 100% .

ZNF655 2015 98% .

ZNF658 3196 98% .

ZNF660 1000 100% .

ZNF662 1736 95% .

ZNF664 790 100% .

ZNF664-FAM101A 416 100% .

ZNF665 2049 100% .

UCLA Health System




Feb 2013

Page 648


ZNF667 1849 100% .

ZNF668 2614 98% .

ZNF669 1676 94% .

ZNF670 2169 100% .

ZNF671 1621 100% .

ZNF672 1363 87% .

ZNF673 695 93% .

ZNF674 3374 100% ZNF674-Related X-linked Mental Retardation

ZNF675 1723 100% .

ZNF676 1779 100% .

ZNF677 1767 100% .

ZNF678 1759 94% .

ZNF679 1252 100% .

ZNF680 1732 100% .

ZNF681 1954 100% .

ZNF682 1644 100% .

ZNF683 1535 100% .

ZNF684 1153 100% .

ZNF687 3746 98% .

ZNF688 1001 95% .

ZNF689 1515 99% .

ZNF69 470 99% .

ZNF691 1718 100% .

ZNF692 1818 96% .

ZNF695 2857 100% .

ZNF696 1133 85% .

ZNF697 1646 85% .

ZNF699 1949 100% .

ZNF7 2077 100% .

ZNF70 1345 100% .

ZNF700 2245 100% .

ZNF701 1702 92% .

ZNF703 1781 46% .

UCLA Health System




Feb 2013

Page 649


ZNF704 1271 100% .

ZNF705A 923 100% .

ZNF705D 923 31% .

ZNF705G 923 100% .

ZNF706 239 100% .

ZNF707 1132 100% .

ZNF708 1708 100% .

ZNF709 1942 100% .

ZNF71 1474 100% .

ZNF710 2011 99% .

ZNF711 2314 100% ZNF711-Related X-Linked Mental Retardation

ZNF713 1309 100% .

ZNF714 1677 98% .

ZNF716 1504 100% .

ZNF717 2761 15% .

ZNF718 1453 100% .

ZNF720 401 94% .

ZNF721 2780 100% .

ZNF726 238 100% .

ZNF727 1516 100% .

ZNF732 1767 100% .

ZNF735 1255 100% .

ZNF736 1300 100% .

ZNF737 1627 100% .

ZNF74 1955 100% .

ZNF740 606 100% .

ZNF746 3070 81% .

ZNF747 584 86% .

ZNF749 2349 100% .

ZNF750 2180 100% .

ZNF75A 903 100% .

ZNF75D 1553 100% .

ZNF76 1765 100% .

UCLA Health System




Feb 2013

Page 650


ZNF761 2386 100% .

ZNF763 1210 100% .

ZNF764 2160 95% .

ZNF765 1584 100% .

ZNF766 1423 100% .

ZNF768 1631 100% .

ZNF77 1654 100% .

ZNF770 2080 100% .

ZNF771 962 58% .

ZNF772 1490 100% .

ZNF773 1345 100% .

ZNF774 1464 100% .

ZNF775 1622 82% .

ZNF776 1569 100% .

ZNF777 2516 100% .

ZNF778 2210 100% .

ZNF780A 3983 100% .

ZNF780B 2518 100% .

ZNF781 988 100% .

ZNF782 2116 100% .

ZNF783 1665 97% .

ZNF784 980 69% .

ZNF785 1230 98% .

ZNF786 2365 100% .

ZNF787 1160 61% .

ZNF789 1336 100% .

ZNF79 1517 100% .

ZNF790 1927 100% .

ZNF791 1747 100% .

ZNF792 1915 99% .

ZNF793 1237 100% .

ZNF799 1948 100% .

ZNF8 1744 96% .

UCLA Health System




Feb 2013

Page 651


ZNF80 826 100% .

ZNF800 2015 100% .

ZNF804A 3646 100% .

ZNF804B 4066 100% .

ZNF805 3535 99% .

ZNF808 2724 100% .

ZNF81 2002 99% X-Linked Mental Retardation 45

ZNF813 1866 100% .

ZNF814 2580 99% .

ZNF816 1968 100% .

ZNF816-ZNF321P 697 100% .

ZNF821 1792 100% .

ZNF823 1849 100% .

ZNF827 3286 100% .

ZNF829 1692 90% .

ZNF83 4665 100% .

ZNF830 1123 100% .

ZNF831 5054 100% .

ZNF835 1665 100% .

ZNF836 2823 100% .

ZNF837 1600 46% .

ZNF839 2816 90% .

ZNF84 2233 0% .

ZNF841 2791 99% .

ZNF843 1051 27% .

ZNF844 2017 100% .

ZNF845 2925 100% .

ZNF846 1622 100% .

ZNF85 1907 100% .

ZNF850 3289 98% .

ZNF853 1992 17% .

ZNF860 1903 100% .

ZNF862 3542 99% .

UCLA Health System




Feb 2013

Page 652


ZNF865 3184 9% .

ZNF878 1605 100% .

ZNF879 1708 66% .

ZNF880 1750 99% .

ZNF883 1144 100% .

ZNF90 1822 100% .

ZNF91 3592 100% .

ZNF92 1877 100% .

ZNF93 1879 100% .

ZNF98 1735 100% .

ZNF99 2544 100% .

ZNFX1 5809 100% .

ZNHIT1 485 100% .

ZNHIT2 1216 84% .

ZNHIT3 488 100% .

ZNHIT6 2773 100% .

ZNRD1 397 100% .

ZNRF1 700 35% .

ZNRF2 745 43% .

ZNRF3 2543 100% .

ZNRF4 1294 100% .

ZP1 1965 100% .

ZP2 2314 100% .

ZP3 1623 99% .

ZP4 1671 100% .

ZPBP 1245 91% .

ZPBP2 1049 100% .

ZPLD1 1340 100% .

ZRANB1 2163 100% .

ZRANB2 1071 100% .

ZRANB3 3320 100% .

ZRSR2 1493 98% .

ZSCAN1 1243 100% .

UCLA Health System




Feb 2013

Page 653


ZSCAN10 2198 94% .

ZSCAN12 1848 100% .

ZSCAN16 1059 100% .

ZSCAN18 3108 92% .

ZSCAN2 1943 100% .

ZSCAN20 3160 100% .

ZSCAN21 1434 100% .

ZSCAN22 1484 100% .

ZSCAN23 1182 100% .

ZSCAN29 2579 100% .

ZSCAN30 1518 100% .

ZSCAN4 1314 100% .

ZSCAN5A 1507 100% .

ZSCAN5B 1504 100% .

ZSWIM1 1462 100% .

ZSWIM2 1938 100% .

ZSWIM3 2099 100% .

ZSWIM4 3022 88% .

ZSWIM5 3614 96% .

ZSWIM6 3704 65% .

ZSWIM7 914 50% .

ZUFSP 1773 100% .

ZW10 2404 100% .

ZWILCH 1848 100% .

ZWINT 1186 100% .

ZXDA 2404 86% .

ZXDB 2416 85% .

ZXDC 3319 86% .

ZYG11A 2336 97% .

ZYG11B 2291 99% .

ZYX 1755 98% .

ZZEF1 9106 97% .

ZZZ3 2756 100% .

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